ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.859G>C (p.Asp287His)

dbSNP: rs2151168637
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
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV005095984 SCV002558897 likely pathogenic Intellectual disability, autosomal dominant 5 criteria provided, single submitter clinical testing

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