ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1690_1693dup (p.Gln565fs)

dbSNP: rs1555422298
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671304 SCV000796265 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-12-06 criteria provided, single submitter clinical testing

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