ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.1603dup (p.Ser535fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV004776320 SCV005387597 pathogenic Intellectual disability, autosomal dominant 5 2024-07-16 criteria provided, single submitter clinical testing

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