Submissions for variant NM_182914.3(SYNE2):c.430C>G (p.Leu144Val)

gnomAD frequency: 0.00180  dbSNP: rs142000273

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000336601	SCV000335062	likely benign	not specified	2015-09-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001080615	SCV000387318	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	RCV001080615	SCV000769380	benign	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	2024-01-13	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000713715	SCV000844342	likely benign	not provided	2018-02-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000713715	SCV004134198	benign	not provided	2022-03-01	criteria provided, single submitter	clinical testing	SYNE2: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000713715	SCV005212121	likely benign	not provided		criteria provided, single submitter	not provided