ClinVar Miner

Submissions for variant NM_003239.5(TGFB3):c.294G>A (p.Ser98=)

gnomAD frequency: 0.00001  dbSNP: rs778214495
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001311367 SCV000534631 likely benign not provided 2020-08-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311416 SCV000737955 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-03-16 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002520926 SCV001008661 likely benign Rienhoff syndrome 2024-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502230 SCV002804695 likely benign Arrhythmogenic right ventricular dysplasia 1; Rienhoff syndrome 2021-10-28 criteria provided, single submitter clinical testing

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