Submissions for variant NM_182961.4(SYNE1):c.23713G>A (p.Glu7905Lys)

gnomAD frequency: 0.00138  dbSNP: rs148997223

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174630	SCV000225961	benign	not specified	2016-06-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000835355	SCV000977146	likely benign	not provided	2020-04-03	criteria provided, single submitter	clinical testing
Invitae	RCV001084775	SCV001012601	likely benign	Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant	2024-01-15	criteria provided, single submitter	clinical testing
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	RCV001640266	SCV001519232	benign	Autosomal recessive ataxia, Beauce type	2021-07-12	criteria provided, single submitter	research
CeGaT Center for Human Genetics Tuebingen	RCV000835355	SCV004700411	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	SYNE1: BS2
PreventionGenetics, part of Exact Sciences	RCV003965258	SCV004785043	likely benign	SYNE1-related condition	2019-08-27	criteria provided, single submitter	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).