ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.580A>G (p.Met194Val) (rs587777878)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Northcott Neuroscience Laboratory, ANZAC Research Institute RCV000143794 SCV000188686 pathogenic Charcot-Marie-Tooth Neuropathy X Type 1 no assertion criteria provided not provided Converted during submission to Pathogenic.

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