ClinVar Miner

Submissions for variant NM_003239.5(TGFB3):c.*9G>A

gnomAD frequency: 0.00679  dbSNP: rs4252346
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421010 SCV000528025 benign not specified 2016-10-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770645 SCV000902100 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-02-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703969 SCV005217737 likely benign not provided criteria provided, single submitter not provided

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