Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000222400 | SCV000269378 | benign | not specified | 2015-06-11 | criteria provided, single submitter | clinical testing | p.Val308Val in exon 5 of MYOM1: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (94/16498) of South Asian chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs536739408). |
Invitae | RCV001516347 | SCV001724617 | benign | Hypertrophic cardiomyopathy | 2023-08-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000222400 | SCV003857435 | likely benign | not specified | 2022-12-12 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 |
RCV003937808 | SCV004747689 | likely benign | MYOM1-related condition | 2020-01-02 | 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). |