Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000216949 | SCV000270922 | likely benign | not specified | 2015-04-07 | criteria provided, single submitter | clinical testing | p.Tyr133Tyr in exon 5 of TMEM43: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. |
Color Diagnostics, |
RCV001804947 | SCV002053612 | likely benign | Cardiomyopathy | 2021-03-09 | criteria provided, single submitter | clinical testing |