Submissions for variant NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met)

gnomAD frequency: 0.00105  dbSNP: rs146567178

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000281910	SCV000340511	likely benign	not specified	2016-03-18	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710238	SCV000615549	benign	not provided	2017-12-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000710238	SCV000985005	likely benign	not provided	2021-01-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710238	SCV001154938	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	SYNE1: BP4
Labcorp Genetics (formerly Invitae), Labcorp	RCV002059212	SCV002413045	likely benign	Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant	2025-01-21	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000710238	SCV001931586	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000281910	SCV001958506	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535375	SCV004732244	likely benign	SYNE1-related disorder	2022-12-12	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).