ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=) (rs398123778)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666317 SCV000790589 likely benign Limb-girdle muscular dystrophy, type 2B 2017-04-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080264 SCV000112159 uncertain significance not provided 2013-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263463 SCV000431785 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318489 SCV000431786 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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