ClinVar Miner

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

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Total submissions: 9
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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 RCV000081268 SCV000250579 benign not provided 2020-03-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28152038, 26813965, 24728327)
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 2020-12-03 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
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000081268 SCV001798413 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000081268 SCV001929329 likely benign not provided no assertion criteria provided clinical testing

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