ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.2951T>C (p.Met984Thr)

gnomAD frequency: 0.00006  dbSNP: rs202028680
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV001700810 SCV002503120 uncertain significance not provided 2021-12-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496014 SCV002783970 uncertain significance Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-08-02 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700810 SCV001917840 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001700810 SCV001952720 uncertain significance not provided no assertion criteria provided clinical testing

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