ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.1386G>T (p.Val462=)

gnomAD frequency: 0.00216  dbSNP: rs186153976
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196766 SCV000250588 benign not specified 2014-07-29 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.
Eurofins Ntd Llc (ga) RCV000196766 SCV000706597 benign not specified 2017-03-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618012 SCV000739133 benign Cardiovascular phenotype 2017-01-17 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,General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV003761816 SCV000754968 benign FG syndrome 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717989 SCV000848850 benign History of neurodevelopmental disorder 2017-01-17 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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