Submissions for variant NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu)

gnomAD frequency: 0.00193  dbSNP: rs149978500

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000710262	SCV000332563	uncertain significance	not provided	2015-07-10	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001082623	SCV000387611	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.
Athena Diagnostics	RCV000710262	SCV000615720	likely benign	not provided	2018-02-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082623	SCV000648910	likely benign	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	2024-01-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710262	SCV004134304	benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	SYNE2: BP4, BS1, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000710262	SCV001929759	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000710262	SCV001970702	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003939941	SCV004753321	benign	SYNE2-related disorder	2019-06-27	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).