ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.106A>G (p.Met36Val) (rs17025864)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000242516 SCV000319782 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-06-05 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Invitae RCV000242516 SCV000658806 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-12-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000242516 SCV000901780 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-09-07 criteria provided, single submitter clinical testing
GeneDx RCV000828695 SCV000970393 likely benign not provided 2018-04-09 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001059 SCV001158180 likely benign not specified 2019-02-28 criteria provided, single submitter clinical testing
Color RCV000242516 SCV001347959 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-06 criteria provided, single submitter clinical testing

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