ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.597+1del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatrics, Sichuan Provincial Hospital For Women And Children RCV003154180 SCV003842306 likely pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome 2022-06-10 criteria provided, single submitter research The proband, male, 3 years old, was found to have an intracranial cyst during the fetus, and now has a state of continuous epilepsy and overall developmental delay

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