ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.934G>C (p.Val312Leu) (rs377403264)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000117597 SCV000151824 likely benign not specified 2013-07-15 criteria provided, single submitter clinical testing
GeneDx RCV000117597 SCV000250616 likely benign not specified 2017-04-06 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 RCV000246879 SCV000319826 benign Cardiovascular phenotype 2017-10-25 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000862608 SCV001003133 benign FG syndrome 1 2019-12-31 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196895 SCV001367529 likely benign Hypertelorism; Small nail; Thin vermilion border; Narrow palate; Microcephaly 2019-02-20 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2. This variant was detected in heterozygous state.

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