ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.3652-10_3652-9insT

gnomAD frequency: 0.00002  dbSNP: rs773590187
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000773569 SCV000907263 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001619838 SCV001843273 benign not provided 2015-11-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869099 SCV002199815 likely benign Aortic aneurysm, familial thoracic 4 2024-10-30 criteria provided, single submitter clinical testing

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