Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038047 | SCV000061713 | likely benign | not specified | 2013-01-30 | criteria provided, single submitter | clinical testing | Ala1505Ala in exon 23 of DSP: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1/8600 European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS/), and in 1/176 Yoruba chromosomes from a broad population by the 1000 Genomes Project (dbSNP rs193197554). Ala1505Ala in exon 23 of DSP (rs193197554; allele frequency = 1/8600) ** |
Prevention |
RCV000038047 | SCV000310360 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000641829 | SCV000763479 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000777970 | SCV000914073 | likely benign | Cardiomyopathy | 2018-10-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001171853 | SCV001334728 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | DSP: BP4, BP7 |
Ambry Genetics | RCV002336136 | SCV002635151 | likely benign | Cardiovascular phenotype | 2022-10-11 | 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. |