ClinVar Miner

Submissions for variant NM_018684.4(ZC4H2):c.601C>T (p.Pro201Ser)

dbSNP: rs398122939
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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 RCV001374903 SCV001572190 likely pathogenic Neurodevelopmental disorder 2020-06-24 criteria provided, single submitter clinical testing
OMIM RCV000043678 SCV000071689 pathogenic Wieacker-Wolff syndrome 2013-05-02 no assertion criteria provided literature only

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