ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.8G>A (p.Trp3Ter)

dbSNP: rs1555936989
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000654851 SCV000776753 pathogenic Charcot-Marie-Tooth Neuropathy X 2021-09-01 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789800 SCV000929184 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447153 SCV004174722 uncertain significance Charcot-Marie-Tooth disease X-linked dominant 1 2016-01-06 no assertion criteria provided literature only

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