ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.939C>G (p.Gly313=)

gnomAD frequency: 0.00003  dbSNP: rs773165722
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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 RCV000774312 SCV000908014 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-16 criteria provided, single submitter clinical testing
Invitae RCV000817456 SCV000958017 likely benign Aortic aneurysm, familial thoracic 4 2023-03-08 criteria provided, single submitter clinical testing
GeneDx RCV001592955 SCV001826194 likely benign not provided 2020-10-21 criteria provided, single submitter clinical testing

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