ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.94+16245G>A (rs61732532)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424751 SCV000514891 likely benign not specified 2017-09-26 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 RCV000769347 SCV000900733 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-06-19 criteria provided, single submitter clinical testing
Color RCV000769347 SCV000911338 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-14 criteria provided, single submitter clinical testing

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