ClinVar Miner

Submissions for variant NM_181882.2(PRX):c.4059_4061GGA[6] (p.Glu1361del) (rs139624657)

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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 RCV000576819 SCV000677435 benign Charcot-Marie-Tooth disease, demyelinating, type 4F 2017-05-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000344573 SCV000333751 benign not specified 2015-08-13 criteria provided, single submitter clinical testing
Invitae RCV000200304 SCV000252891 benign Charcot-Marie-Tooth disease type 4 2018-01-11 criteria provided, single submitter clinical testing

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