Clinvar accession numbers
WebMar 26, 2024 · First in ClinVar: Jun 9, 2016 Most recent Submission: Feb 13, 2024 Last evaluated: Oct 21, 2024 Accession: VCV000260243.20 Variation ID: 260243 Description: 9bp microsatellite. Variant details Conditions Gene(s) ... These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at … WebThe search string (e.g., just a part of a word) for which to find matches in the list. More than one partial word can be present in "terms", in which case there is an implicit AND between them. Optional, with a default of 7. Specifies the number of results requested, up to the upper limit of 500.
Clinvar accession numbers
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WebThe ClinVar RCV ID is provided by ClinVar as an accession number that describes a ClinVar submission. For more details visit here : dbSNP Id: 369602258: Search the allele registry using dbSNP rs-Identifier. The rs identifier is an identifier for a location and type of variation. More information about dbSNP is available here :
WebJun 11, 2024 · After your API submission is successfully processed by ClinVar, we return the ClinVar accession numbers to you and the records are published within a week. … WebFeb 7, 2024 · First in ClinVar: Feb 3, 2024 Most recent Submission: Feb 7, 2024 Last evaluated: Oct 25, 2024 Accession: VCV000808425.18 Variation ID: 808425 Description: single nucleotide variant. Variant details Conditions Gene(s) ... Number of submissions Review status Last evaluated
WebNov 20, 2024 · For the ClinVar web display, the variation-level aggregation is the default display; from this page, the variation-disease aggregation can be viewed by clicking the … WebMar 3, 2024 · The ClinVar accession number for the present variants are SCV002028348, and SCV002028352 to SCV002028361. Conclusions: Genetic variants in VHL, SDHB and RET were identified in Chinese PPGL patients, which contributed to the knowledge of the genetic etiology and clinical outcome of these tumors.
WebJan 8, 2024 · The ClinVar website and E-utilities both have been updated to support the VCV (variation in ClinVar) accession numbers found in the variant-centric XML file. …
WebApr 9, 2024 · First in ClinVar: Dec 26, 2024 Most recent Submission: Apr 9, 2024 Last evaluated: Aug 25, 2024 Accession: VCV000237063.13 Variation ID: 237063 Description: single nucleotide variant. Variant details Conditions Gene(s) ... Number of individuals with the variant: 1. Likely benign (Aug 25, 2024) criteria provided, single submitter ... highmark of western new yorkWebJan 4, 2016 · Interpretations are aggregated by variant-condition combination and assigned an accession number prefixed with RCV. Clinical significance is calculated for the … highmark office chairsWeb1 We are currently working on a project where we need to access the 'NP_' accession number from ClinVar. However, when we use the Entrez.eFetch ( ) function, this … highmark of wny otcWebMar 23, 2024 · E-utilities and Entrez Direct. As part of NCBI's Entrez system, ClinVar can be accessed by E-utilities, both via web services and a UNIX command line as Entrez … highmark of wny medicare advantageWebClinVar is a public archive with free access to reports on the relationships between human variations and phenotypes, with supporting evidence. The database includes germline … highmark of west virginiaClinVar maintains multiple identifiers to resources outside of NCBI. 1. In the XML, these are reported in the XRef element. 2. In the tab-delimited directories, these are reported in 2.1. cross … See more ClinVar assigns accession numbers to its records. Accession numbers in ClinVar have the pattern of 3 letters and 9 numerals. The letters are either SCV (think of it as Submitted … See more ClinVar maintains multiple identifiers to other NCBI resources. These include the BookShelf, dbSNP, dbVar, Gene, MedGen's CUI, PubMed, and PubMedCentral. 1. In the XML, these are reported in the XRef … See more highmark of wny wellness cardWebFeb 13, 2024 · Affected status: unknown. Allele origin: germline. Invitae. Accession: SCV003483447.1. First in ClinVar: Feb 07, 2024. Last updated: Feb 07, 2024. Comment : This variant occurs in a non-coding region of the CFTR gene. It does not change the encoded amino acid sequence of the CFTR protein. highmark of wny provider search