Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000605199 | SCV000719232 | likely benign | not specified | 2018-03-02 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV000621407 | SCV000738247 | uncertain significance | Cardiovascular phenotype | 2017-12-12 | criteria provided, single submitter | clinical testing | The c.171-4T>C intronic variant results from a T to C substitution 4 nucleotides upstream from exon 2 in the DSP gene. This nucleotide position is not well conserved in available vertebrate species. This alteration is predicted to slightly weaken the efficiency of the native splice acceptor site by the BDGP splice prediction tool, but ESEfinder predicts a strengthening of the native splice acceptor site; direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Color Diagnostics, |
RCV001180598 | SCV001345557 | likely benign | Cardiomyopathy | 2022-11-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001395294 | SCV001596999 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-08-17 | criteria provided, single submitter | clinical testing |