ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.933C>T (p.Ser311=)

gnomAD frequency: 0.00003  dbSNP: rs200912890
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770355 SCV000901795 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-02-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000770355 SCV001350052 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-03-16 criteria provided, single submitter clinical testing
Invitae RCV000770355 SCV002493143 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000770355 SCV002684876 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-02-19 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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