ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala) (rs151268930)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000313317 SCV000431820 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000370350 SCV000431821 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000517870 SCV000613208 uncertain significance not specified 2017-02-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727268 SCV000707105 uncertain significance not provided 2017-03-23 criteria provided, single submitter clinical testing
Invitae RCV000727268 SCV001021669 likely benign not provided 2018-07-02 criteria provided, single submitter clinical testing

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