ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.2613G>A (p.Gln871=) (rs372344160)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726879 SCV000703799 uncertain significance not provided 2016-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000598249 SCV000719422 likely benign not specified 2017-05-15 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.
Ambry Genetics RCV000620589 SCV000739157 likely benign Cardiovascular phenotype 2017-01-16 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001088366 SCV001005616 benign FG syndrome 1 2019-12-31 criteria provided, single submitter clinical testing

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