ClinVar Miner

Submissions for variant NM_052988.5(CDK10):c.729del (p.Glu244fs)

dbSNP: rs2060622260
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268115 SCV001446772 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001268115 SCV004010534 likely pathogenic not provided 2023-06-01 criteria provided, single submitter clinical testing CDK10: PVS1:Strong, PM2, PM3
Institute of Human Genetics, University of Goettingen RCV001729831 SCV001977096 likely pathogenic Al Kaissi syndrome 2020-11-20 no assertion criteria provided clinical testing

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