Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035963 | SCV000059615 | likely benign | not specified | 2015-10-01 | criteria provided, single submitter | clinical testing | p.Glu1799Glu 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. |
Gene |
RCV000864463 | SCV000714679 | likely benign | not provided | 2019-08-12 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 15769782, 24503780) |
Color Diagnostics, |
RCV001175855 | SCV001339633 | likely benign | Cardiomyopathy | 2019-02-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001393492 | SCV001595157 | likely benign | Hypertrophic cardiomyopathy | 2024-01-03 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001175855 | SCV004239481 | likely benign | Cardiomyopathy | 2023-05-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003974872 | SCV004794804 | likely benign | MYH7-related condition | 2020-09-01 | 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). |