ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln)

gnomAD frequency: 0.00314  dbSNP: rs76646638
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176502 SCV000228169 benign not specified 2014-10-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000344711 SCV000461533 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.
Illumina Laboratory Services, Illumina RCV000391806 SCV000461534 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.
GeneDx RCV000710254 SCV000527488 likely benign not provided 2021-05-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30610203)
Athena Diagnostics RCV000710254 SCV000615654 benign not provided 2018-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086083 SCV000649152 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-01-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000710254 SCV001158160 likely benign not provided 2023-10-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000710254 SCV001962009 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing SYNE1: BP4
Genetic Services Laboratory, University of Chicago RCV000176502 SCV002069809 likely benign not specified 2020-11-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000710254 SCV005227954 likely benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000710254 SCV001799729 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000710254 SCV001927932 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000710254 SCV001968006 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004537402 SCV004742749 benign SYNE1-related disorder 2020-10-12 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).

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