ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1363T>C (p.Trp455Arg)

dbSNP: rs2141199370
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001730018 SCV001976761 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-08-10 criteria provided, single submitter clinical testing PS2, PM1, PM2, PM3, PP2, PP3

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