ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.359_381del (p.Gly120fs)

dbSNP: rs1777174302
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001089537 SCV001244891 pathogenic Intellectual disability, autosomal dominant 5 2019-11-06 criteria provided, single submitter clinical testing

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