ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.*482_*485dup

dbSNP: rs780202767
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000267340 SCV000391057 uncertain significance Limb-girdle muscular dystrophy, recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000322472 SCV000391058 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2016-06-14 criteria provided, single submitter clinical testing

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