ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.639C>T (p.Ser213=)

gnomAD frequency: 0.00003  dbSNP: rs200332401
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001706683 SCV000716375 likely benign not provided 2020-02-18 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660319 SCV000782363 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000660319 SCV001010878 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-01-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000660319 SCV001346450 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-02-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000660319 SCV002655315 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-08-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
PreventionGenetics, part of Exact Sciences RCV003900378 SCV004714475 likely benign TGFBR2-related disorder 2023-09-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV004002500 SCV004839182 likely benign Loeys-Dietz syndrome 2 2023-11-30 criteria provided, single submitter clinical testing

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