ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1127T>C (p.Leu376Pro)

dbSNP: rs2152742282
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272728 SCV002556820 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-12-29 criteria provided, single submitter clinical testing

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