ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.530+20C>T

dbSNP: rs780914854
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001269142 SCV001448402 benign not specified 2020-11-30 criteria provided, single submitter clinical testing
GeneDx RCV001579384 SCV001871740 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002069389 SCV002475606 benign Aortic aneurysm, familial thoracic 4 2025-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001579384 SCV005290234 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579384 SCV001807027 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001579384 SCV001951267 likely benign not provided no assertion criteria provided clinical testing

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