ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5787-4733CT[2]

dbSNP: rs747642850
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182481 SCV000234826 benign Familial thoracic aortic aneurysm and aortic dissection 2013-01-11 criteria provided, single submitter clinical testing The variant is found in TAAD panel(s).
Invitae RCV000545180 SCV000641080 likely benign Aortic aneurysm, familial thoracic 4 2024-01-20 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680548 SCV000807959 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000182481 SCV000904575 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-09-29 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000182481 SCV004239430 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-11-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736625 SCV004562104 likely benign not provided 2023-06-20 criteria provided, single submitter clinical testing

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