ClinVar Miner

Submissions for variant NM_000080.3(CHRNE):c.465C>T (p.Phe155=) (rs139625105)

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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 RCV000728331 SCV000855887 uncertain significance not provided 2017-08-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398236 SCV000403890 uncertain significance Congenital Myasthenic Syndrome, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000247987 SCV000301942 likely benign not specified criteria provided, single submitter clinical testing

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