ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.3859-14C>A

gnomAD frequency: 0.00003  dbSNP: rs763714252
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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 RCV001179171 SCV001343782 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003629158 SCV004529932 likely benign Aortic aneurysm, familial thoracic 4 2024-10-12 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001179171 SCV004822380 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-04-03 criteria provided, single submitter clinical testing

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