ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.678A>C (p.Arg226Ser)

dbSNP: rs267606842
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Inherited Neuropathy Consortium RCV000789152 SCV000928504 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447186 SCV004174611 uncertain significance Autosomal dominant Charcot-Marie-Tooth disease type 2K 2016-01-06 no assertion criteria provided literature only

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