ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.59del (p.Pro20fs)

dbSNP: rs1555417271
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666074 SCV000790313 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-03-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV000666074 SCV001163393 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A criteria provided, single submitter clinical testing
Baylor Genetics RCV003459576 SCV004213828 pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2022-08-19 flagged submission clinical testing

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