ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.4006G>A (p.Glu1336Lys)

gnomAD frequency: 0.00001  dbSNP: rs1226494061
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001880090 SCV002137395 benign Intellectual disability, autosomal dominant 5 2023-10-03 criteria provided, single submitter clinical testing
GenomeConnect - Simons Searchlight RCV001265350 SCV001443469 uncertain significance Complex neurodevelopmental disorder 2019-02-18 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2019-02-18 and interpreted as Variant of Uncertain significance. Variant was initially reported on 2017-12-20 by GTR ID of laboratory name 500105. The reporting laboratory might also submit to ClinVar.

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