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

gnomAD frequency: 0.00417  dbSNP: rs72887798

Total submissions: 6

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	2024-04-01	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