ClinVar Miner

Submissions for variant NM_022041.4(GAN):c.601C>T (p.Arg201Ter)

gnomAD frequency: 0.00001  dbSNP: rs119485090
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000005336 SCV000891510 pathogenic Giant axonal neuropathy 1 2017-12-30 criteria provided, single submitter curation
OMIM RCV000005336 SCV000025514 pathogenic Giant axonal neuropathy 1 2002-04-23 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV000005336 SCV004174490 uncertain significance Giant axonal neuropathy 1 2016-01-06 no assertion criteria provided literature only

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