ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3979-9_3979-7delinsGC

dbSNP: rs796876119
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001723712 SCV000199055 uncertain significance not provided 2021-05-07 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Fulgent Genetics, Fulgent Genetics RCV002492558 SCV002787355 uncertain significance Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2022-02-11 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723712 SCV001951706 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000151215 SCV001970161 benign not specified no assertion criteria provided clinical testing

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