ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.759+10G>A

gnomAD frequency: 0.00002  dbSNP: rs200198865
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000342232 SCV000431686 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000392637 SCV000431687 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001488417 SCV001692933 likely benign Qualitative or quantitative defects of dysferlin 2023-05-21 criteria provided, single submitter clinical testing

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