ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.320-4C>T (rs377467465)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726910 SCV000523330 likely benign not provided 2020-12-15 criteria provided, single submitter clinical testing
Invitae RCV001080913 SCV000636221 likely benign Charcot-Marie-Tooth disease, type I 2020-11-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726910 SCV000704126 uncertain significance not provided 2016-12-16 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000726910 SCV001151224 likely benign not provided 2016-10-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173926 SCV001337045 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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