ClinVar Miner

Submissions for variant NM_177559.3(CSNK2A1):c.127C>T (p.Arg43Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002289386 SCV002580884 pathogenic Okur-Chung neurodevelopmental syndrome 2022-07-11 criteria provided, single submitter clinical testing

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