ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.328G>T (p.Asp110Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, University of Torino RCV002465452 SCV002760143 uncertain significance X-linked intellectual disability-cerebellar hypoplasia syndrome 2022-11-29 criteria provided, single submitter research

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