ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.719G>A (p.Cys240Tyr)

dbSNP: rs121908115
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000004423 SCV000024596 pathogenic Charcot-Marie-Tooth disease axonal type 2K 2009-04-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447066 SCV004174623 uncertain significance Autosomal dominant Charcot-Marie-Tooth disease type 2K 2016-01-06 no assertion criteria provided literature only

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