ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3979-9_3979-8del

dbSNP: rs193922652
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204067 SCV000261622 benign Hypertrophic cardiomyopathy 14 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000482862 SCV000565703 benign not specified 2017-11-07 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, Children's Hospital of Eastern Ontario RCV001171185 SCV001333877 benign Cardiomyopathy 2018-03-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000482862 SCV001360442 benign not specified 2019-08-16 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000482862 SCV001743744 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000482862 SCV001951763 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000482862 SCV001966720 benign not specified no assertion criteria provided clinical testing

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