ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.399G>A (p.Trp133Ter)

dbSNP: rs1602349302
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003886436 SCV004704447 pathogenic not provided 2024-02-01 criteria provided, single submitter clinical testing GJB1: PP1:Strong, PVS1:Strong, PM2, PP4, PS4:Supporting
Inherited Neuropathy Consortium RCV000789931 SCV000929316 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447296 SCV004174723 uncertain significance Charcot-Marie-Tooth disease X-linked dominant 1 2016-01-06 no assertion criteria provided literature only

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