ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.646T>C (p.Leu216=)

gnomAD frequency: 0.00002  dbSNP: rs1386366470
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001422020 SCV001624555 likely benign Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2025-01-11 criteria provided, single submitter clinical testing

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