Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037995 | SCV000061661 | likely benign | not specified | 2012-05-15 | criteria provided, single submitter | clinical testing | Gly509Gly in Exon 12 of DSP: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Gly509Gly in Exon 12 of DSP (allele frequency = n/a) |
Invitae | RCV001496784 | SCV001701496 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2019-05-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002390152 | SCV002705423 | likely benign | Cardiovascular phenotype | 2022-04-18 | 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. |