Submissions for variant NM_182914.3(SYNE2):c.16639G>A (p.Asp5547Asn)

gnomAD frequency: 0.00998  dbSNP: rs17179194

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000548059	SCV000387564	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	RCV000548059	SCV000648880	benign	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	2024-01-25	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV001288054	SCV001474880	benign	not specified	2020-03-19	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001573862	SCV005292576	benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573862	SCV001800332	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001288054	SCV001930717	benign	not specified		no assertion criteria provided	clinical testing