ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.1536A>G (p.Glu512=)

gnomAD frequency: 0.07295  dbSNP: rs7759963
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000465571 SCV000562706 benign Intellectual disability, autosomal dominant 5 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312505 SCV000846494 benign Inborn genetic diseases 2016-03-18 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001675625 SCV001894002 benign not provided 2018-07-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118563 SCV000152969 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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