ClinVar Miner

Submissions for variant NM_000080.3(CHRNE):c.*6A>G (rs55806270)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174218 SCV000225483 benign not specified 2015-05-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386633 SCV000403858 uncertain significance Congenital Myasthenic Syndrome, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000174218 SCV000301924 benign not specified criteria provided, single submitter clinical testing

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