ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1276+11C>T

gnomAD frequency: 0.15096  dbSNP: rs35982795
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080228 SCV000112123 benign not specified 2015-04-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000080228 SCV000269045 benign not specified 2015-01-13 criteria provided, single submitter clinical testing c.1276+11C>T in intron 13 of DYSF: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence. It has been identified in 18.7% (824/4406) of African American chromosom es from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs. washington.edu/EVS; dbSNP rs35982795).
PreventionGenetics, part of Exact Sciences RCV000080228 SCV000309639 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000286315 SCV000431702 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000324901 SCV000431703 likely benign Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000080228 SCV000519290 benign not specified 2016-01-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Laboratory Services, Illumina RCV001139796 SCV001299983 benign Qualitative or quantitative defects of dysferlin 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.
Genome-Nilou Lab RCV001664334 SCV001875852 benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001664333 SCV001875853 benign Distal myopathy with anterior tibial onset 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001664332 SCV001875854 benign Miyoshi muscular dystrophy 1 2021-07-30 criteria provided, single submitter clinical testing
Invitae RCV001139796 SCV002331537 benign Qualitative or quantitative defects of dysferlin 2024-02-01 criteria provided, single submitter clinical testing

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