ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1311C>T (p.Ile437=) (rs148697028)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000406958 SCV000337164 likely benign not specified 2016-02-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293655 SCV000431708 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350865 SCV000431709 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000543795 SCV000649598 benign Dysferlinopathy 2017-11-08 criteria provided, single submitter clinical testing

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