ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.*251C>G (rs772995394)

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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 RCV000287992 SCV000350210 uncertain significance Charcot-Marie-Tooth, Intermediate 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347391 SCV000350211 uncertain significance Roussy-Lévy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293818 SCV000350212 uncertain significance Congenital hypomyelinating neuropathy 1, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293818 SCV000350213 uncertain significance Congenital hypomyelinating neuropathy 1, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348698 SCV000350214 uncertain significance Charcot-Marie-Tooth disease, type I 2016-06-14 criteria provided, single submitter clinical testing

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