ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.1362G>A (p.Gly454=)

gnomAD frequency: 0.00002  dbSNP: rs778151348
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001484008 SCV001688416 likely benign Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2019-12-15 criteria provided, single submitter clinical testing

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