ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.1733C>T (p.Pro578Leu)

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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 RCV002289169 SCV002578993 uncertain significance X-linked intellectual disability-cerebellar hypoplasia syndrome 2022-05-04 criteria provided, single submitter clinical testing

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