ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.2886C>T (p.Ser962=) (rs34761462)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153479 SCV000202989 benign not specified 2014-02-05 criteria provided, single submitter clinical testing
GeneDx RCV000153479 SCV000250590 benign not specified 2014-09-22 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.
Invitae RCV000229119 SCV000288797 benign FG syndrome 1 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618419 SCV000738387 benign Cardiovascular phenotype 2015-08-25 criteria provided, single submitter clinical testing In silico models in agreement (benign) ;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Ambry Genetics RCV000719189 SCV000850055 benign History of neurodevelopmental disorder 2015-08-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign) ,General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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