ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.1851G>A (p.Glu617=) (rs75579703)

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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 RCV000715530 SCV000846359 benign History of neurodevelopmental disorder 2016-03-02 criteria provided, single submitter clinical testing
Invitae RCV000860451 SCV001000510 benign Mental retardation, autosomal dominant 5 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118566 SCV000152972 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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