ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1314T>C (p.Asn438=)

gnomAD frequency: 0.00001  dbSNP: rs772490613
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001447804 SCV001650880 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV001447804 SCV002689679 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-26 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.
Color Diagnostics, LLC DBA Color Health RCV001447804 SCV004359821 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-11-19 criteria provided, single submitter clinical testing

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