ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.7T>C (p.Trp3Arg)

dbSNP: rs1602348537
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV002473134 SCV002771558 uncertain significance not provided 2022-08-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003485644 SCV004235141 uncertain significance Charcot-Marie-Tooth disease X-linked dominant 1 2023-06-13 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789227 SCV000928579 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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