Submissions for variant NM_006772.3(SYNGAP1):c.84T>C (p.Ser28=)

gnomAD frequency: 0.00815  dbSNP: rs142359891

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000118571	SCV000152977	benign	not specified	2015-09-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000463563	SCV000562714	benign	Intellectual disability, autosomal dominant 5	2024-01-27	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000463563	SCV000743890	benign	Intellectual disability, autosomal dominant 5	2014-10-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313923	SCV000847748	benign	Inborn genetic diseases	2016-05-09	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV000857539	SCV001145599	benign	not provided	2019-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000857539	SCV001871893	benign	not provided	2019-08-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000857539	SCV002586111	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	SYNGAP1: BP4, BP7, BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV000463563	SCV002799965	likely benign	Intellectual disability, autosomal dominant 5	2021-10-05	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000463563	SCV000734495	likely benign	Intellectual disability, autosomal dominant 5		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004549588	SCV004731652	benign	SYNGAP1-related disorder	2019-10-17	no assertion criteria provided	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).