ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2509C>T (p.Arg837Trp)

gnomAD frequency: 0.00009  dbSNP: rs371841411
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523223 SCV000618743 uncertain significance not provided 2019-07-25 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV002527605 SCV003520165 likely benign Qualitative or quantitative defects of dysferlin 2023-11-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829489 SCV002079857 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-10-28 no assertion criteria provided clinical testing

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