ClinVar Miner

Submissions for variant NM_004637.5(RAB7A):c.482A>C (p.Asn161Thr) (rs121909080)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000007772 SCV000027973 pathogenic Charcot-Marie-Tooth disease type 2B 2004-10-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059223 SCV000090752 not provided not provided no assertion provided not provided
Inherited Neuropathy Consortium RCV000789552 SCV000928908 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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