ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.1356C>A (p.Tyr452Ter)

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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, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV004791069 SCV005413148 likely pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome 2024-03-21 criteria provided, single submitter clinical testing

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