Submissions for variant NM_182914.3(SYNE2):c.1721T>C (p.Ile574Thr)

gnomAD frequency: 0.08879  dbSNP: rs9944035

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000118526	SCV000337115	benign	not specified	2015-10-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000601930	SCV000387325	benign	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	2018-01-12	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	RCV000601930	SCV001717172	benign	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001618282	SCV001846313	benign	not provided	2018-07-09	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001618282	SCV005296511	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000118526	SCV000152932	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000601930	SCV000733386	benign	Emery-Dreifuss muscular dystrophy 5, autosomal dominant		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000118526	SCV001917605	benign	not specified		no assertion criteria provided	clinical testing