ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1276_1277del (p.Leu426fs)

dbSNP: rs1555421854
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668771 SCV000793424 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-08-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV003459602 SCV004213800 pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2023-03-07 flagged submission clinical testing

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