Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151232 | SCV000199099 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | p.Arg1909Arg in Exon 39 of MYH7: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence. It has been identified in 0.1% (4/3738) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs146796870). |
Gene |
RCV001704088 | SCV000513815 | likely benign | not provided | 2021-05-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000629133 | SCV000750049 | benign | Hypertrophic cardiomyopathy | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001185999 | SCV001352324 | likely benign | Cardiomyopathy | 2018-11-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345468 | SCV002649648 | likely benign | Cardiovascular phenotype | 2018-02-12 | 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 |
RCV003975177 | SCV004790634 | likely benign | MYH7-related condition | 2022-07-25 | 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). |