ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4359+13C>T

gnomAD frequency: 0.46131  dbSNP: rs8022522
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Total submissions: 8
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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 RCV000037503 SCV000061161 benign not specified 2011-09-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000037503 SCV000308977 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001711122 SCV001940818 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Invitae RCV002054665 SCV002347039 benign Hypertrophic cardiomyopathy 14 2024-02-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000037503 SCV001741211 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000037503 SCV001922271 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000037503 SCV001955073 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000037503 SCV001973340 benign not specified no assertion criteria provided clinical testing

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