ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.6247C>T (p.Arg2083Trp)

gnomAD frequency: 0.00006  dbSNP: rs185617318
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533199 SCV000649740 likely benign Qualitative or quantitative defects of dysferlin 2023-12-22 criteria provided, single submitter clinical testing
GeneDx RCV001755866 SCV001997329 uncertain significance not provided 2020-01-02 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity Omics RCV001755866 SCV003831248 uncertain significance not provided 2020-11-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834801 SCV002080359 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-10-28 no assertion criteria provided clinical testing

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