ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.3273A>G (p.Leu1091=)

gnomAD frequency: 0.00216  dbSNP: rs145707539
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553036 SCV000646433 benign Intellectual disability, autosomal dominant 5 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316562 SCV000849700 likely benign Inborn genetic diseases 2016-03-21 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 RCV001535178 SCV001752169 benign not provided 2018-10-12 criteria provided, single submitter clinical testing

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