ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5711C>T (p.Ala1904Val) (rs200663107)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121331 SCV000113176 likely benign not specified 2015-11-09 criteria provided, single submitter clinical testing
GeneDx RCV000121331 SCV000250579 likely benign not specified 2017-09-01 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000081268 SCV000280860 likely benign not provided 2016-01-18 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Ambry Genetics RCV000248528 SCV000320393 benign Cardiovascular phenotype 2018-05-18 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 RCV001086459 SCV000559583 likely benign FG syndrome 1 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000121331 SCV000595757 likely benign not specified 2015-09-14 criteria provided, single submitter clinical testing
ITMI RCV000121331 SCV000085504 not provided not specified 2013-09-19 no assertion provided reference population

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