ClinVar Miner

Submissions for variant NM_004637.5(RAB7A):c.471G>C (p.Lys157Asn) (rs121909081)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000007773 SCV000027974 pathogenic Charcot-Marie-Tooth disease type 2B 2009-07-15 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059222 SCV000090751 not provided not provided no assertion provided not provided
Inherited Neuropathy Consortium RCV000789553 SCV000928909 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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