ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.381G>A (p.Thr127=) (rs202125318)

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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 RCV000620351 SCV000739143 likely benign Cardiovascular phenotype 2016-04-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724071 SCV000229065 uncertain significance not provided 2014-07-22 criteria provided, single submitter clinical testing
GeneDx RCV000177224 SCV000518836 likely benign not specified 2017-10-31 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 RCV000633702 SCV000754969 benign FG syndrome 2017-12-07 criteria provided, single submitter clinical testing

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