Submissions for variant NM_182961.4(SYNE1):c.1983C>T (p.Asn661=)

gnomAD frequency: 0.00388  dbSNP: rs149670417

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175487	SCV000226973	likely benign	not specified	2014-12-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000392323	SCV000461557	benign	Emery-Dreifuss muscular dystrophy 4, 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.
Illumina Laboratory Services, Illumina	RCV000304453	SCV000461558	likely benign	Autosomal recessive ataxia, Beauce type	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV001528903	SCV000523318	likely benign	not provided	2020-11-20	criteria provided, single submitter	clinical testing
Invitae	RCV000531065	SCV000649099	benign	Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000175487	SCV001474830	benign	not specified	2020-05-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001528903	SCV002062712	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	SYNE1: BP4, BP7, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528903	SCV001741444	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000175487	SCV001956752	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001528903	SCV001976285	likely benign	not provided		no assertion criteria provided	clinical testing