ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3979-13C>A

gnomAD frequency: 0.00013  dbSNP: rs563648655
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712396 SCV000532112 likely benign not provided 2021-02-03 criteria provided, single submitter clinical testing
Invitae RCV002059945 SCV002403066 benign Hypertrophic cardiomyopathy 14 2024-01-20 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000420115 SCV001920072 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001712396 SCV001952789 likely benign not provided no assertion criteria provided clinical testing

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