ClinVar Miner

Submissions for variant NM_022041.4(GAN):c.1447C>T (p.Gln483Ter)

gnomAD frequency: 0.00001  dbSNP: rs119485089
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000005334 SCV000025512 pathogenic Giant axonal neuropathy 1 2000-11-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV000005334 SCV004174491 uncertain significance Giant axonal neuropathy 1 2016-01-06 no assertion criteria provided literature only

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