ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.646-10_650del (rs863225026)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201070 SCV000255803 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b 2015-08-07 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789429 SCV000928784 pathogenic Charcot-Marie-Tooth disease no assertion criteria provided literature only

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