WebOct 15, 2024 · Number Tested Family history Method; not provided: germline: yes: 1: not provided: not provided: 1: not provided: clinical testing: ... Data submitted to ClinVar indicates that this variant did not segregate with disease in a family study (ClinVar Accession: SCV000186214.6). In summary, this variant meets criteria to be classified … WebFeb 13, 2024 · First in ClinVar: Nov 29, 2024 Most recent Submission: Feb 7, 2024 Last evaluated: Aug 9, 2024 Accession: VCV001760207.3 Variation ID: 1760207 Description: single nucleotide variant. Variant details Conditions Gene(s) ... Number of submissions Review status Last evaluated
Identifiers in ClinVar - National Center for Biotechnology …
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. 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 … mani technologies
VCV000260243.20 - ClinVar - NCBI - National Center for …
WebFeb 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. ClinVar 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 WebJul 16, 2024 · The upstream variant is a nonsense variant that causes protein function loss, which did not directly correlate with evidence from the ACMG criteria. In their upgrade, … critical care nurses association conference