Submissions for variant NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala)

gnomAD frequency: 0.01462  dbSNP: rs200533370

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174415	SCV000225711	benign	not specified	2015-01-22	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000174415	SCV000249074	uncertain significance	not specified	2015-06-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000174415	SCV000514827	benign	not specified	2016-12-15	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000515022	SCV000610745	benign	not provided	2017-08-22	criteria provided, single submitter	clinical testing
Invitae	RCV000034817	SCV000639943	benign	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000515022	SCV000844185	benign	not provided	2018-04-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000715955	SCV000846787	benign	History of neurodevelopmental disorder	2017-06-22	criteria provided, single submitter	clinical testing	General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	RCV000034817	SCV000883119	likely benign	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	2018-11-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000515022	SCV004165389	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	SYN1: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003924899	SCV004742711	benign	SYN1-related condition	2021-06-18	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).
OMIM	RCV001352674	SCV000058379	uncertain significance	Intellectual disability, X-linked 50	2011-06-15	no assertion criteria provided	literature only
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000515022	SCV001800770	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000515022	SCV001929161	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000174415	SCV001975851	benign	not specified		no assertion criteria provided	clinical testing