ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.5233C>G (p.Gln1745Glu)

dbSNP: rs2499816666
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital Muenster RCV003232944 SCV003929513 uncertain significance See cases 2023-04-17 criteria provided, single submitter clinical testing ACMG categories: PM1,PM2,PP3

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