Submissions for variant NM_182961.4(SYNE1):c.2881C>T (p.Arg961Trp)

gnomAD frequency: 0.00135  dbSNP: rs201146062

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000605794	SCV000722647	likely benign	not specified	2017-09-07	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.
Eurofins Ntd Llc (ga)	RCV000605794	SCV000863372	likely benign	not specified	2018-09-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000872214	SCV001154964	benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	SYNE1: BP4, BS1, BS2
Invitae	RCV002064046	SCV002384738	benign	Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant	2021-10-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927993	SCV004741055	benign	SYNE1-related condition	2020-01-27	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).