ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.567C>T (p.Tyr189=)

gnomAD frequency: 0.00005  dbSNP: rs371221124
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000654820 SCV000776720 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-01-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000654820 SCV001354753 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-02-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193762 SCV001362856 likely benign not specified 2019-10-15 criteria provided, single submitter clinical testing
GeneDx RCV001672921 SCV001890471 likely benign not provided 2021-06-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000654820 SCV002653893 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-02-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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