ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.722T>G (p.Ile241Ser) (rs759945787)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667485 SCV000791941 likely pathogenic GNE myopathy 2017-06-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000733198 SCV000861233 uncertain significance not provided 2018-05-18 criteria provided, single submitter clinical testing

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