ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1711del (p.Leu571fs)

dbSNP: rs1334369407
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666547 SCV000790854 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-04-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005010651 SCV005637797 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 2024-03-13 criteria provided, single submitter clinical testing

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