Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825176 | SCV000966449 | likely benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Asp582Asp in exon 15 of KCNQ1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.26% (43/16508) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exa c.broadinstitute.org; dbSNP rs569971691). |
Invitae | RCV000868615 | SCV001009968 | benign | Long QT syndrome | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001172044 | SCV001334976 | likely benign | not provided | 2020-05-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001842006 | SCV001344257 | benign | Cardiac arrhythmia | 2018-11-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001172044 | SCV001780432 | likely benign | not provided | 2020-07-28 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 16487223) |
Ambry Genetics | RCV002399833 | SCV002710297 | likely benign | Cardiovascular phenotype | 2020-03-06 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |