Submissions for variant NM_182914.3(SYNE2):c.14734C>G (p.Pro4912Ala)

gnomAD frequency: 0.03286  dbSNP: rs17766354

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000547729	SCV000387520	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	RCV000547729	SCV000648854	benign	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	2025-02-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000547729	SCV000744048	benign	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	2014-10-09	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000713705	SCV000844332	benign	not provided	2018-06-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000713705	SCV002007005	likely benign	not provided	2020-07-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000713705	SCV005212152	likely benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000118515	SCV000152921	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.
Clinical Genetics, Academic Medical Center	RCV000118515	SCV001925775	benign	not specified		no assertion criteria provided	clinical testing