ClinVar Miner

Submissions for variant NM_006772.3(SYNGAP1):c.1491T>C (p.Tyr497=)

gnomAD frequency: 0.00417  dbSNP: rs72887798
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232446 SCV000289594 benign Intellectual disability, autosomal dominant 5 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317766 SCV000850090 likely benign Inborn genetic diseases 2016-07-08 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.
Athena Diagnostics RCV001289211 SCV001476874 benign not specified 2020-02-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532541 SCV001748152 benign not provided 2024-03-01 criteria provided, single submitter clinical testing SYNGAP1: BP4, BP7, BS1, BS2
GeneDx RCV001532541 SCV001915904 benign not provided 2018-08-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000232446 SCV002805163 likely benign Intellectual disability, autosomal dominant 5 2021-08-31 criteria provided, single submitter clinical testing

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