Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038109 | SCV000061775 | likely benign | not specified | 2013-02-11 | criteria provided, single submitter | clinical testing | Ser2843_Arg2846del in exon 24 of DSP: This variant is not expected to have clini cal significance because it has been identified in 1.45% (62/4266) of African Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). This in-frame deletion of four amino acids occurs within a section of repeating amino acids, which can result from several different DNA deletions, and is present in mammals (dolphin, opossum, and platy pus) and other evolutionarily distant species. |
Gene |
RCV000766890 | SCV000233675 | likely benign | not provided | 2019-05-30 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27532257, 21636032) |
Color Diagnostics, |
RCV001525687 | SCV001735867 | likely benign | Cardiomyopathy | 2020-12-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001852801 | SCV002125189 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002444483 | SCV002680817 | likely benign | Cardiovascular phenotype | 2020-07-30 | 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. |