ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5787-4733C>T

gnomAD frequency: 0.00001  dbSNP: rs772569815
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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 RCV001180086 SCV001344945 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-02-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068265 SCV002471396 likely benign Aortic aneurysm, familial thoracic 4 2021-06-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001180086 SCV004843586 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-10-23 criteria provided, single submitter clinical testing

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