ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.1343C>T (p.Ser448Phe)

dbSNP: rs2077140176
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001031016 SCV001160814 uncertain significance X-linked intellectual disability-cerebellar hypoplasia syndrome 2019-12-11 criteria provided, single submitter research ACMG evidence PM2, PM3, PP3

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