ClinVar Miner

Submissions for variant NM_005902.4(SMAD3):c.457C>T (p.Leu153=) (rs145380987)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000357076 SCV000904488 likely benign Thoracic aortic aneurysm and aortic dissection 2018-04-07 criteria provided, single submitter clinical testing
GeneDx RCV000200280 SCV000250749 benign not specified 2015-07-13 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.
Illumina Clinical Services Laboratory,Illumina RCV000297586 SCV000393483 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357076 SCV000393484 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000357076 SCV000556210 likely benign Thoracic aortic aneurysm and aortic dissection 2017-10-31 criteria provided, single submitter clinical testing

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