ClinVar Miner

Submissions for variant NM_052988.5(CDK10):c.664_665del (p.Met222fs)

gnomAD frequency: 0.00001  dbSNP: rs767050911
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001171589 SCV001334383 pathogenic not provided 2019-05-28 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University RCV003329119 SCV004035929 pathogenic Al Kaissi syndrome criteria provided, single submitter clinical testing

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