ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.515T>C (p.Leu172Pro)

dbSNP: rs886045475
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000268795 SCV000350240 uncertain significance Charcot-Marie-Tooth disease type 4E 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000268795 SCV000350241 uncertain significance Charcot-Marie-Tooth disease type 4E 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000309818 SCV000350242 uncertain significance Charcot-Marie-Tooth, Intermediate 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000364593 SCV000350243 uncertain significance Charcot-Marie-Tooth disease, type I 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000274699 SCV000350244 uncertain significance Roussy-Lévy syndrome 2016-06-14 criteria provided, single submitter clinical testing

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