Submissions for variant NM_182914.3(SYNE2):c.18039-5T>A

gnomAD frequency: 0.00199  dbSNP: rs189611387

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173934	SCV000225114	likely benign	not specified	2015-07-10	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001084161	SCV000387581	benign	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084161	SCV000648895	benign	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	2024-01-30	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000713712	SCV000844339	likely benign	not provided	2018-02-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000713712	SCV004134288	benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	SYNE2: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003937554	SCV004749284	benign	SYNE2-related disorder	2019-06-27	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).
Breakthrough Genomics, Breakthrough Genomics	RCV000713712	SCV005212166	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000713712	SCV001928075	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000713712	SCV001968724	likely benign	not provided		no assertion criteria provided	clinical testing