ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.2562_2578del (p.Leu855fs)

dbSNP: rs1561788984
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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 RCV000680114 SCV000807556 pathogenic Intellectual disability, autosomal dominant 5 2017-09-01 criteria provided, single submitter clinical testing This frameshift variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory de novo in a 4-year-old male with global delays, autism, epileptic encephalopathy.

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