ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.121G>A (p.Gly41Arg)

dbSNP: rs2057941966
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333496 SCV001526089 uncertain significance Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2018-10-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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