ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4662G>A (p.Glu1554=)

gnomAD frequency: 0.00001  dbSNP: rs747434041
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456372 SCV000556110 likely benign Aortic aneurysm, familial thoracic 4 2023-03-27 criteria provided, single submitter clinical testing
GeneDx RCV001591111 SCV001816408 likely benign not provided 2019-09-10 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003485585 SCV004239422 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-07-26 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003485585 SCV004359345 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-11-06 criteria provided, single submitter clinical testing

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