Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037451 | SCV000061109 | benign | not specified | 2012-02-22 | criteria provided, single submitter | clinical testing | Asn663Asn in exon 17 of MYH6: This variant is not expected to have clinical sign ificance because it does not change an amino acid residue and has been identifie d in 0.7% (51/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs28 730774). |
Eurofins Ntd Llc |
RCV000037451 | SCV000226606 | likely benign | not specified | 2015-02-10 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000231283 | SCV000287398 | benign | Hypertrophic cardiomyopathy 14 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000248032 | SCV000318220 | likely benign | Cardiovascular phenotype | 2015-05-06 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Gene |
RCV000037451 | SCV000515440 | benign | not specified | 2016-11-17 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV000769420 | SCV000900813 | benign | Cardiomyopathy | 2016-03-11 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001528689 | SCV001473130 | benign | not provided | 2023-09-28 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496587 | SCV002811843 | likely benign | Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to | 2021-09-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001528689 | SCV004010265 | benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | MYH6: BP4, BP7, BS1, BS2 |
Breakthrough Genomics, |
RCV001528689 | SCV005211383 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Diagnostic Laboratory, |
RCV001528689 | SCV001740856 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000037451 | SCV001923344 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000037451 | SCV001957814 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001528689 | SCV001972500 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Prevention |
RCV004534785 | SCV004751460 | benign | MYH6-related disorder | 2020-11-16 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |