Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220554 | SCV000270462 | likely benign | not specified | 2015-09-29 | criteria provided, single submitter | clinical testing | p.Ala1762Ala in exon 37 of MYH7: 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 1/16512 South Asi an chromosomes and 1/8654 East Asian chromosomes by the Exome Aggregation Consor tium (ExAC, http://exac.broadinstitute.org; dbSNP rs771432461). |
Invitae | RCV000891659 | SCV001035485 | likely benign | Hypertrophic cardiomyopathy | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001525837 | SCV001736034 | likely benign | Cardiomyopathy | 2020-10-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002347828 | SCV002644754 | likely benign | Cardiovascular phenotype | 2019-06-14 | 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. |
Prevention |
RCV003977612 | SCV004786422 | likely benign | MYH7-related condition | 2021-08-16 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |