Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000151071 | SCV000170442 | benign | not specified | 2013-08-15 | 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, |
RCV000151071 | SCV000198812 | likely benign | not specified | 2010-11-12 | criteria provided, single submitter | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |
Ambry Genetics | RCV000621874 | SCV000739983 | likely benign | Cardiovascular phenotype | 2016-07-19 | 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. |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000625351 | SCV000745031 | likely benign | Hypertrophic cardiomyopathy 4 | 2017-06-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001089207 | SCV000750056 | likely benign | Hypertrophic cardiomyopathy | 2024-01-17 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000756371 | SCV000884164 | likely benign | not provided | 2018-06-20 | criteria provided, single submitter | clinical testing | The p.Thr1095Thr variant (rs367927327) does not alter the amino acid sequence of the MYBPC3 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with cardiomyopathy in medical literature or in gene specific variation databases. This variant is listed in the Genome Aggregation Database (gnomAD) with an overall population frequency of 0.01 percent (identified on 24 out of 234,546 chromosomes) and has been reported to the ClinVar database (Variation ID: 138319). Based on these observations, the p.Thr1095Thr variant is likely to be benign. |
Color Diagnostics, |
RCV000771897 | SCV000904661 | likely benign | Cardiomyopathy | 2018-10-16 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000151071 | SCV001921205 | benign | not specified | no assertion criteria provided | clinical testing |