ClinVar Miner

Submissions for variant NM_004737.6(LARGE1):c.2208G>A (p.Gln736=) (rs759427879)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000350180 SCV000438138 uncertain significance Walker-Warburg congenital muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405750 SCV000438139 uncertain significance Congenital Muscular Dystrophy, alpha-dystroglycan related 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000501820 SCV000595557 uncertain significance not specified 2017-02-01 criteria provided, single submitter clinical testing

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