Submissions for variant NM_182914.3(SYNE2):c.7898A>G (p.Asn2633Ser)

gnomAD frequency: 0.00157  dbSNP: rs190582637

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000162194	SCV000333600	benign	not specified	2015-08-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000556701	SCV000387410	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	RCV000556701	SCV000648978	benign	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000162194	SCV001475660	benign	not specified	2020-02-25	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004714525	SCV005290344	benign	not provided		criteria provided, single submitter	not provided
Blueprint Genetics	RCV000162194	SCV000212127	likely benign	not specified	2015-03-02	no assertion criteria provided	research