ClinVar Miner

Submissions for variant NM_003239.4(TGFB3):c.1122C>G (p.Ala374=) (rs4252345)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247638 SCV000319949 benign Cardiovascular phenotype 2015-08-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx RCV000430297 SCV000521399 benign not specified 2016-10-12 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 RCV000287671 SCV000388853 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000231878 SCV000287905 benign Loeys-Dietz syndrome 4 2018-01-12 criteria provided, single submitter clinical testing

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