Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000206084 | SCV000261252 | benign | Hypertrophic cardiomyopathy | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000602390 | SCV000711570 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | Pro909Pro in exon 18 of MYOM1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.3% (28/8220) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs72860212). |
Ambry Genetics | RCV002315634 | SCV000739812 | likely benign | Inborn genetic diseases | 2022-05-17 | 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 |
RCV003907769 | SCV004724257 | likely benign | MYOM1-related condition | 2019-08-08 | 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). |