ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1642del (p.Arg548fs)

dbSNP: rs1555422293
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674431 SCV000799767 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2018-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005010671 SCV005635699 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 2024-06-03 criteria provided, single submitter clinical testing

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