ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.224A>T (p.Asp75Val) (rs121913597)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000190346 SCV000055674 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b 2015-03-26 no assertion criteria provided literature only
GeneReviews RCV000192247 SCV000239895 pathogenic Charcot-Marie-Tooth disease 2015-04-30 no assertion criteria provided literature only
OMIM RCV000015248 SCV000035507 pathogenic Charcot-Marie-Tooth disease type 2J 2000-12-01 no assertion criteria provided literature only

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