Submissions for variant NM_182961.4(SYNE1):c.19692+3G>A

gnomAD frequency: 0.00039  dbSNP: rs150304757

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000284833	SCV000336847	benign	not specified	2015-11-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000987802	SCV000461041	benign	Autosomal recessive ataxia, Beauce type	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.
Illumina Laboratory Services, Illumina	RCV000268635	SCV000461042	benign	Emery-Dreifuss muscular dystrophy 4, 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.
GeneDx	RCV001697636	SCV000524866	benign	not provided	2020-11-05	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26539891)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000549619	SCV000649089	benign	Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant	2024-01-21	criteria provided, single submitter	clinical testing
Mendelics	RCV000987802	SCV001137258	benign	Autosomal recessive ataxia, Beauce type	2023-08-22	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000284833	SCV001474829	benign	not specified	2019-10-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001697636	SCV002545460	benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	SYNE1: BS1, BS2
Molecular Genetics, Royal Melbourne Hospital	RCV003993915	SCV004812504	benign	Arthrogryposis multiplex congenita 3, myogenic type	2023-05-04	criteria provided, single submitter	clinical testing	South Asian population frequency is 2.65% (859/30,614 alleles, 21 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.6.1, this variant is classified as BENIGN. Following criteria are met: BA1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	RCV000454154	SCV000537983	likely pathogenic	Abnormal brain morphology		flagged submission	research