ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.412A>T (p.Lys138Ter)

dbSNP: rs121918315
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000006764 SCV000782328 pathogenic Intellectual disability, autosomal dominant 5 2016-11-01 criteria provided, single submitter clinical testing
OMIM RCV000006764 SCV000026956 pathogenic Intellectual disability, autosomal dominant 5 2009-02-05 no assertion criteria provided literature only

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