Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825249 | SCV000966534 | likely benign | not specified | 2018-08-29 | criteria provided, single submitter | clinical testing | The p.Leu255Leu variant in TMEM43 is classified as likely benign because it does not alter an amino acid residue, it is not located within the splice consensus sequence, and splice prediction algorithms do not predict a newly created splice site. ACMG/AMP Criteria applied: BP4, BP7, PM2. |
Color Diagnostics, |
RCV001176023 | SCV001339836 | likely benign | Cardiomyopathy | 2020-02-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001428157 | SCV001630850 | likely benign | Arrhythmogenic right ventricular dysplasia 5 | 2023-11-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002390717 | SCV002670686 | likely benign | Cardiovascular phenotype | 2019-09-06 | 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. |