Submissions for variant NM_182914.3(SYNE2):c.15556C>A (p.Leu5186Met)

gnomAD frequency: 0.56664  dbSNP: rs10151658

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000118520	SCV000152926	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000603767	SCV000387537	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.
SIB Swiss Institute of Bioinformatics	RCV000118520	SCV000803464	benign	not specified	2018-05-31	criteria provided, single submitter	curation	This variant is interpreted as a Benign - Stand Alone. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000603767	SCV001717178	benign	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001618281	SCV001844674	benign	not provided	2018-07-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000603767	SCV002062146	benign	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	2021-07-15	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001618281	SCV005292025	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000603767	SCV000733392	benign	Emery-Dreifuss muscular dystrophy 5, autosomal dominant		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000118520	SCV001921030	benign	not specified		no assertion criteria provided	clinical testing