ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.1586G>A (p.Gly529Glu)

dbSNP: rs2147404496
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV002274314 SCV002558921 likely pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome criteria provided, single submitter clinical testing

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