ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.1420+3_1420+14del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV004598556 SCV005091907 uncertain significance X-linked intellectual disability-cerebellar hypoplasia syndrome criteria provided, single submitter clinical testing In-silico prediction tool (SpliceAI) predicts the variant g.68113169_68113180del to cause aberrant splicing and impair the OPHN1 protein function. The clinical features observed in the proband are in concordance with intellectual development disorder, X-linked, Billuart type.

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