ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.616C>T (p.Gln206Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005041809 SCV005682589 likely pathogenic Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders; Intellectual disability, X-linked 50 2024-04-29 criteria provided, single submitter clinical testing

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