ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.5652C>T (p.Ala1884=)

gnomAD frequency: 0.00062  dbSNP: rs200662317
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727014 SCV000534368 likely benign not provided 2021-09-28 criteria provided, single submitter clinical testing
Invitae RCV001079496 SCV000557877 benign Hypertrophic cardiomyopathy 14 2024-01-20 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727014 SCV000704929 uncertain significance not provided 2017-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617875 SCV000736044 likely benign Cardiovascular phenotype 2023-11-07 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000423727 SCV001519617 benign not specified 2021-03-13 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798780 SCV002043201 benign Cardiomyopathy 2019-09-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000727014 SCV004129057 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing MYH6: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004544553 SCV004799199 benign MYH6-related disorder 2019-05-02 criteria provided, single submitter 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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000727014 SCV001739858 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000423727 SCV001921832 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000423727 SCV001931445 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000423727 SCV001953021 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000727014 SCV001975340 likely benign not provided no assertion criteria provided clinical testing

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