ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2393G>A (p.Arg798His)

gnomAD frequency: 0.00008  dbSNP: rs763456750
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550765 SCV000649627 benign Qualitative or quantitative defects of dysferlin 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV001558981 SCV001781034 uncertain significance not provided 2019-10-28 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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 RCV001558981 SCV003830914 uncertain significance not provided 2020-03-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274454 SCV001458655 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-16 no assertion criteria provided clinical testing

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