ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.1971C>T (p.His657=)

gnomAD frequency: 0.00002  dbSNP: rs201236500
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Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001503870 SCV001708731 likely benign Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2024-12-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438843 SCV004165388 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing SYN1: BP4, BP7

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