ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.349dup (p.Tyr117fs)

dbSNP: rs1586803063
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000004416 SCV001150117 pathogenic Charcot-Marie-Tooth disease recessive intermediate A 2018-07-19 criteria provided, single submitter clinical testing
OMIM RCV000004416 SCV000024589 pathogenic Charcot-Marie-Tooth disease recessive intermediate A 2003-03-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789162 SCV000928514 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447194 SCV004174580 uncertain significance Charcot-Marie-Tooth disease axonal type 2K 2016-01-06 no assertion criteria provided literature only

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