ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.1889C>A (p.Pro630His)

dbSNP: rs866834118
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330743 SCV001522530 uncertain significance X-linked intellectual disability-cerebellar hypoplasia syndrome 2019-10-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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