ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.4059_4061GGA[6] (p.Glu1361del) (rs139624657)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200304 SCV000252891 benign Charcot-Marie-Tooth disease type 4 2019-12-30 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
Athena Diagnostics Inc RCV000576819 SCV000677435 benign Charcot-Marie-Tooth disease, demyelinating, type 4F 2017-05-24 criteria provided, single submitter clinical testing
Mendelics RCV000990214 SCV001141084 benign SPINOCEREBELLAR ATAXIA 46 2019-05-28 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV000857043 SCV001337084 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Genesis Genome Database RCV000857043 SCV000999613 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research
Genesis Genome Database RCV000857044 SCV000999614 uncertain significance Charcot-Marie-Tooth disease, type I 2019-08-14 no assertion criteria provided research
Genesis Genome Database RCV000857045 SCV000999615 uncertain significance Charcot-Marie-Tooth disease type 5 2019-08-14 no assertion criteria provided research
Genesis Genome Database RCV000200304 SCV000999616 uncertain significance Charcot-Marie-Tooth disease type 4 2019-08-14 no assertion criteria provided research

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