Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000223026 | SCV000270563 | likely benign | not specified | 2015-12-18 | criteria provided, single submitter | clinical testing | p.Pro866Pro in exon 18 of MYOM1: 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. It has been identified in 5/66732 of Europe an chromosomes by the Exome Aggregation Consortium (ExAC,http://exac.broadinstit ute.org;dbSNP rs778413922). |
Invitae | RCV001421501 | SCV001624025 | likely benign | Hypertrophic cardiomyopathy | 2021-10-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426998 | SCV002743292 | likely benign | Inborn genetic diseases | 2019-06-30 | 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. |