Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000218287 | SCV000270828 | likely benign | not specified | 2015-05-19 | criteria provided, single submitter | clinical testing | p.Asp152Asp in exon 4 of SCN5A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.2% (16/7510) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs190803993). |
Gene |
RCV001722163 | SCV000514532 | likely benign | not provided | 2021-10-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000617677 | SCV000737040 | likely benign | Cardiovascular phenotype | 2016-10-26 | 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. |
Color Diagnostics, |
RCV001842977 | SCV000904914 | likely benign | Cardiac arrhythmia | 2018-10-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001722163 | SCV001002471 | benign | not provided | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003967584 | SCV004779053 | likely benign | SCN5A-related condition | 2019-08-26 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |