ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.718G>A (p.Asp240Asn)

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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 RCV005001971 SCV005627544 uncertain significance Intellectual disability, autosomal dominant 5 2024-12-19 criteria provided, single submitter clinical testing Criteria applied: PM2,PP2,PP3

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