ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1256G>A (p.Arg419Gln)

dbSNP: rs776036392
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000647995 SCV000769805 likely benign Qualitative or quantitative defects of dysferlin 2024-03-01 criteria provided, single submitter clinical testing
GeneDx RCV003162956 SCV003915167 uncertain significance not provided 2022-10-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001835045 SCV002079792 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-10-28 no assertion criteria provided clinical testing

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