Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000168899 | SCV000170530 | benign | not specified | 2013-09-20 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Laboratory for Molecular Medicine, |
RCV000168899 | SCV000710881 | likely benign | not specified | 2016-04-14 | criteria provided, single submitter | clinical testing | p.His1331His in exon 30 of MYH7: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. |
Color Diagnostics, |
RCV000771905 | SCV000904669 | likely benign | Cardiomyopathy | 2018-08-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000863815 | SCV001004533 | likely benign | Hypertrophic cardiomyopathy | 2024-01-19 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000771905 | SCV001333900 | benign | Cardiomyopathy | 2017-11-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002371966 | SCV002625019 | likely benign | Cardiovascular phenotype | 2022-08-25 | 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. |
Ce |
RCV001701610 | SCV004129088 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | MYH7: BP4, BP7 |
Genome Diagnostics Laboratory, |
RCV001701610 | SCV001929551 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000168899 | SCV001958413 | benign | not specified | no assertion criteria provided | clinical testing |