ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4464+7T>C (rs369949055)

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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 RCV000366694 SCV000431824 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269730 SCV000431825 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000876154 SCV001018684 benign not provided 2019-02-15 criteria provided, single submitter clinical testing

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