Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001082163 | SCV000555776 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000457367 | SCV000722569 | likely benign | not provided | 2020-11-30 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000599812 | SCV000967215 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | p.Thr2733Thr in Exon 24 of DSP: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence. It has been identified in 1/3738 African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs145085696). |
Color Diagnostics, |
RCV001190643 | SCV001358196 | likely benign | Cardiomyopathy | 2018-10-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429574 | SCV002681201 | likely benign | Cardiovascular phenotype | 2019-12-02 | 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. |
Prevention |
RCV003960048 | SCV004784574 | likely benign | DSP-related condition | 2023-10-17 | 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). |