ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.6174-9C>T

gnomAD frequency: 0.00075  dbSNP: rs201070766
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726633 SCV000345875 uncertain significance not provided 2016-09-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000265268 SCV000613219 likely benign not specified 2020-11-12 criteria provided, single submitter clinical testing
Invitae RCV001084824 SCV000649736 likely benign Qualitative or quantitative defects of dysferlin 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000265268 SCV000727930 likely benign not specified 2018-03-01 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 RCV001084824 SCV001298126 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. RCV001276872 SCV001463487 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-05-02 no assertion criteria provided clinical testing

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