Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000608904 | SCV000712054 | likely benign | not specified | 2016-05-06 | criteria provided, single submitter | clinical testing | p.Ser7Ser in exon 1 of DSP: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 2/8472 of Latino chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs750532252). |
Color Diagnostics, |
RCV001805204 | SCV002052180 | likely benign | Cardiomyopathy | 2021-03-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002529312 | SCV003447716 | benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-09-05 | criteria provided, single submitter | clinical testing |