Submissions for variant NM_182914.3(SYNE2):c.2270T>C (p.Leu757Ser)

gnomAD frequency: 0.00037  dbSNP: rs200319405

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000706228	SCV000387336	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	RCV000706228	SCV000835267	likely benign	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	2024-01-22	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV001660635	SCV001880791	uncertain significance	not provided	2020-12-08	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000706228	SCV003820792	uncertain significance	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	2019-10-09	criteria provided, single submitter	clinical testing