ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2982C>T (p.Asn994=)

gnomAD frequency: 0.00098  dbSNP: rs142404822
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726965 SCV000704554 uncertain significance not provided 2017-09-25 criteria provided, single submitter clinical testing
GeneDx RCV000726965 SCV000718088 likely benign not provided 2019-11-06 criteria provided, single submitter clinical testing
Invitae RCV001081802 SCV001016427 benign Qualitative or quantitative defects of dysferlin 2024-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001081802 SCV001297774 uncertain significance Qualitative or quantitative defects of dysferlin 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, 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.
Pars Genome Lab RCV001449654 SCV001652870 uncertain significance Miyoshi muscular dystrophy 1 2021-05-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927915 SCV004753200 likely benign DYSF-related disorder 2019-03-22 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001834885 SCV002082247 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-10-24 no assertion criteria provided clinical testing

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