ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.*858T>C (rs886045473)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000362754 SCV000350180 uncertain significance Roussy-Lévy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270444 SCV000350181 uncertain significance Charcot-Marie-Tooth, Intermediate 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332583 SCV000350182 uncertain significance Congenital hypomyelinating neuropathy 1, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332583 SCV000350183 uncertain significance Congenital hypomyelinating neuropathy 1, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274388 SCV000350184 uncertain significance Charcot-Marie-Tooth disease, type I 2016-06-14 criteria provided, single submitter clinical testing

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