ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1091-8G>A

gnomAD frequency: 0.00001  dbSNP: rs749622191
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001177220 SCV001341395 likely benign Cardiomyopathy 2019-07-26 criteria provided, single submitter clinical testing
GeneDx RCV001702884 SCV002567274 likely benign not provided 2018-10-16 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702884 SCV001928448 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001702884 SCV001957443 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702884 SCV001965648 likely benign not provided no assertion criteria provided clinical testing

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