ClinVar Miner

Submissions for variant NM_002677.5(PMP2):c.128T>G (p.Ile43Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Neurology, Shengjing Hospital of China Medical University RCV003482922 SCV004015150 likely pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1G no assertion criteria provided clinical testing

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