ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.1731C>T (p.Ala577=)

dbSNP: rs2147912133
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002134138 SCV002454294 likely benign Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2025-02-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003138092 SCV003818155 uncertain significance not provided 2019-08-06 criteria provided, single submitter clinical testing

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