ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.191T>C (p.Leu64Pro)

dbSNP: rs2078108310
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253493 SCV001429228 uncertain significance X-linked intellectual disability-cerebellar hypoplasia syndrome 2020-01-03 criteria provided, single submitter clinical testing This variant was identified as hemizygous

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