Submissions for variant NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met)

gnomAD frequency: 0.00411  dbSNP: rs36215895

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173937	SCV000225120	likely benign	not specified	2016-02-17	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000173937	SCV000249091	likely benign	not specified	2018-12-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000002414	SCV000387590	likely benign	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000002414	SCV000648899	likely benign	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	2024-01-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000713713	SCV000844340	likely benign	not provided	2018-12-29	criteria provided, single submitter	clinical testing
Mendelics	RCV000002414	SCV001139472	benign	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	2023-08-22	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV000002414	SCV001440044	likely benign	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	2019-01-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000713713	SCV004010294	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	SYNE2: BP4, BS2
OMIM	RCV000002414	SCV000022572	pathogenic	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	2007-12-01	no assertion criteria provided	literature only
Clinical Genetics, Academic Medical Center	RCV000713713	SCV001922180	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000173937	SCV001928709	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003924796	SCV004740511	benign	SYNE2-related disorder	2019-04-01	no assertion criteria provided	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).