ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.1201+3A>G

gnomAD frequency: 0.00001  dbSNP: rs1482683297
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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 RCV001330742 SCV001522529 uncertain significance X-linked intellectual disability-cerebellar hypoplasia syndrome 2020-10-01 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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