ClinVar Miner

Submissions for variant NM_033337.3(CAV3):c.139G>A (p.Glu47Lys)

dbSNP: rs116840793
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000024416 SCV001143445 uncertain significance not provided 2019-08-12 criteria provided, single submitter clinical testing
OMIM RCV000008787 SCV000028997 pathogenic Rippling muscle disease 2 2005-10-25 no assertion criteria provided literature only
Leiden Muscular Dystrophy (CAV3) RCV000024416 SCV000045711 not provided not provided 2012-04-15 no assertion provided curation

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