ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.92G>A (p.Trp31Ter)

dbSNP: rs121908112
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000004409 SCV000024581 pathogenic Charcot-Marie-Tooth disease type 4A 2002-01-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV000004409 SCV004174590 uncertain significance Charcot-Marie-Tooth disease type 4A 2016-01-06 no assertion criteria provided literature only

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