ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.2016G>A (p.Thr672=)

gnomAD frequency: 0.00020  dbSNP: rs57365292
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230257 SCV000289596 benign Intellectual disability, autosomal dominant 5 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317767 SCV000850761 likely benign Inborn genetic diseases 2016-09-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV001723819 SCV001949654 benign not provided 2019-03-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955355 SCV004774648 benign SYNGAP1-related condition 2022-04-06 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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