ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=)

gnomAD frequency: 0.00016  dbSNP: rs139983909
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247034 SCV000309676 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725763 SCV000339247 uncertain significance not provided 2017-05-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000300857 SCV000431800 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000355657 SCV000431801 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000247034 SCV000613204 likely benign not specified 2017-04-28 criteria provided, single submitter clinical testing
Invitae RCV001087720 SCV001016679 likely benign Qualitative or quantitative defects of dysferlin 2024-01-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001087720 SCV001297886 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.
Natera, Inc. RCV001272838 SCV001455230 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-01-24 no assertion criteria provided clinical testing

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