ClinVar Miner

Submissions for variant NM_005121.3(MED13):c.6047C>T (p.Pro2016Leu)

dbSNP: rs1567938478
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000735245 SCV000863454 likely pathogenic CDK8-kinase module-associated disorder 2018-08-24 criteria provided, single submitter research

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