Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038001 | SCV000061667 | likely benign | not specified | 2012-08-30 | criteria provided, single submitter | clinical testing | Thr613Thr in exon 15 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. Thr613Thr in exon 15 of DSP (allele frequency = n/a) |
Color Diagnostics, |
RCV001188368 | SCV001355419 | likely benign | Cardiomyopathy | 2018-10-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001487512 | SCV001692002 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-10-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000876838 | SCV001764517 | likely benign | not provided | 2019-04-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002408515 | SCV002710942 | likely benign | Cardiovascular phenotype | 2021-04-28 | 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. |