ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.*1020G>A (rs886045472)

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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 RCV000326435 SCV000350165 uncertain significance Roussy-Lévy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295760 SCV000350166 uncertain significance Congenital hypomyelinating neuropathy 1, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295760 SCV000350167 uncertain significance Congenital hypomyelinating neuropathy 1, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348310 SCV000350168 uncertain significance Charcot-Marie-Tooth, Intermediate 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386477 SCV000350169 uncertain significance Charcot-Marie-Tooth disease, type I 2016-06-14 criteria provided, single submitter clinical testing

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