Submissions for variant NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg)

dbSNP: rs150376715

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000405613	SCV000335063	likely benign	not specified	2016-09-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000405613	SCV000615581	uncertain significance	not specified	2016-12-31	criteria provided, single submitter	clinical testing
Invitae	RCV000528735	SCV000649067	likely benign	Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant	2024-01-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001200484	SCV001371457	uncertain significance	not provided	2020-04-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001200484	SCV001813355	likely benign	not provided	2019-03-27	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28017257)
Baylor Genetics	RCV003147439	SCV003835064	uncertain significance	Autosomal recessive ataxia, Beauce type	2021-06-29	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001200484	SCV001806827	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001200484	SCV001964202	uncertain significance	not provided		no assertion criteria provided	clinical testing