ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) (rs121913586)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000032123 SCV000055676 pathologic Dejerine-Sottas disease 2012-10-18 no assertion criteria provided curation Converted during submission to Pathogenic.
Inherited Neuropathy Consortium RCV000032123 SCV000928794 uncertain significance Dejerine-Sottas disease no assertion criteria provided literature only
OMIM RCV000015233 SCV000035492 pathogenic Dejerine-Sottas syndrome, autosomal dominant 1993-11-01 no assertion criteria provided literature only
UCLA Clinical Genomics Center, UCLA RCV000198029 SCV000255414 pathogenic Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease, demyelinating, type 1b; Charcot-Marie-Tooth disease dominant intermediate 3; Roussy-Lévy syndrome; Dejerine-Sottas disease; Congenital hypomyelinating neuropathy 1, autosomal recessive 2014-03-11 criteria provided, single submitter clinical testing

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