ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.*436del

dbSNP: rs774244796
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000358617 SCV000391053 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000261566 SCV000391054 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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