ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.508G>A (p.Val170Ile)

gnomAD frequency: 0.00002  dbSNP: rs748095370
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003133595 SCV003816809 uncertain significance Charcot-Marie-Tooth disease X-linked dominant 1 2022-09-21 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000790306 SCV000929714 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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