ClinVar Miner

Submissions for variant NM_181882.2(PRX):c.2787del (p.Lys930fs) (rs754521978)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201078 SCV000255809 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 4F 2014-10-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000517732 SCV000614802 pathogenic not provided 2014-10-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000517732 SCV000339086 pathogenic not provided 2016-02-10 criteria provided, single submitter clinical testing

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