ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=) (rs143475751)

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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 RCV000280424 SCV000338808 likely benign not specified 2018-07-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322455 SCV000431783 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376750 SCV000431784 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000648035 SCV000769845 benign Dysferlinopathy 2017-09-22 criteria provided, single submitter clinical testing

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