ClinVar Miner

Submissions for variant NM_003238.5(TGFB2):c.356C>T (p.Pro119Leu) (rs149533093)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621239 SCV000739695 uncertain significance Cardiovascular phenotype 2016-06-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769556 SCV000900952 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-07-11 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000583868 SCV000692266 uncertain significance Aortic aneurysm 2017-02-16 no assertion criteria provided clinical testing
GeneDx RCV000196866 SCV000250839 likely benign not specified 2018-01-05 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 RCV000304580 SCV000354238 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000477602 SCV000548101 likely benign Holt-Oram syndrome 2018-01-02 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories,Oregon Health and Sciences University RCV000415640 SCV000493806 uncertain significance Loeys-Dietz syndrome 4 2015-10-23 criteria provided, single submitter clinical testing

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