ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.410del (p.Ile137fs)

dbSNP: rs1602349316
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000011185 SCV000031412 pathogenic Charcot-Marie-Tooth disease X-linked dominant 1 1995-10-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789816 SCV000929200 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV000011185 SCV004174671 uncertain significance Charcot-Marie-Tooth disease X-linked dominant 1 2020-12-22 no assertion criteria provided literature only

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