ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.1935T>C (p.Phe645=)

gnomAD frequency: 0.00059  dbSNP: rs145406441
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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 RCV000467328 SCV000562709 benign Intellectual disability, autosomal dominant 5 2025-01-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000504022 SCV000597363 likely benign not specified 2015-11-19 criteria provided, single submitter clinical testing
GeneDx RCV001692141 SCV001907125 benign not provided 2019-06-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413305 SCV002721339 likely benign Inborn genetic diseases 2018-06-12 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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