ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.421C>T (p.Gln141Ter)

dbSNP: rs1456458087
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796314 SCV005418619 pathogenic Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease dominant intermediate D criteria provided, single submitter clinical testing PVS1+PM2_Supporting+PP1+PP4+PS2_Supporting
Inherited Neuropathy Consortium RCV000789498 SCV000928854 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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