Submissions for variant NM_182914.3(SYNE2):c.11379T>C (p.Leu3793=)

gnomAD frequency: 0.00319  dbSNP: rs149391344

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000319082	SCV000333971	benign	not specified	2015-08-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000530497	SCV000387454	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	RCV000530497	SCV000648801	benign	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	2024-01-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003389776	SCV004134244	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	SYNE2: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV003389776	SCV005293283	benign	not provided		criteria provided, single submitter	not provided