ClinVar Miner

Submissions for variant NM_003238.6(TGFB2):c.501G>A (p.Glu167=)

gnomAD frequency: 0.00001  dbSNP: rs550789732
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697565 SCV000719225 likely benign not provided 2019-05-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769557 SCV000900953 benign Familial thoracic aortic aneurysm and aortic dissection 2019-01-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001824347 SCV001006849 benign Loeys-Dietz syndrome 4 2023-08-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279405 SCV002566119 likely benign Ehlers-Danlos syndrome 2022-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000769557 SCV002645512 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-04-03 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.

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