ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.5070C>G (p.Val1690=)

dbSNP: rs146789107
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000659066 SCV000333023 uncertain significance not provided 2016-12-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000371036 SCV000461473 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV000276411 SCV000461474 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 RCV000659066 SCV000527031 likely benign not provided 2019-12-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000659066 SCV000615670 benign not provided 2019-07-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000659066 SCV000780874 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing SYNE1: BP4, BP7
Invitae RCV001087521 SCV001006450 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-01-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000659066 SCV001926877 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000659066 SCV001971673 likely benign not provided no assertion criteria provided clinical testing

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