ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.280G>C (p.Ala94Pro)

dbSNP: rs759171890
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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 RCV000647989 SCV000769799 likely benign Qualitative or quantitative defects of dysferlin 2024-05-31 criteria provided, single submitter clinical testing
GeneDx RCV005054235 SCV005688305 uncertain significance not provided 2024-08-02 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24438169)
Natera, Inc. RCV001835044 SCV002079744 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-10-28 no assertion criteria provided clinical testing

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