ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.458C>A (p.Thr153Asn)

dbSNP: rs998489108
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001266173 SCV001444345 uncertain significance Inborn genetic diseases 2018-06-20 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV001810009 SCV002059613 likely pathogenic Intellectual disability, autosomal dominant 5 2021-02-04 criteria provided, single submitter clinical testing
GenomeConnect - Simons Searchlight RCV001265526 SCV001443670 uncertain significance Complex neurodevelopmental disorder 2018-09-28 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-09-28 and interpreted as Variant of Uncertain significance. Variant was initially reported on 2018-07-06 by GTR ID of laboratory name 61756. The reporting laboratory might also submit to ClinVar.

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