ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.875C>G (p.Pro292Arg) (rs1559053603)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea RCV000757939 SCV000882775 likely pathogenic Limb-girdle muscular dystrophy, type 2B 2019-02-11 no assertion criteria provided research

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