ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.281A>G (p.His94Arg) (rs1602349095)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990863 SCV001141913 pathogenic Charcot-Marie-Tooth Neuropathy X Type 1 2019-05-28 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789804 SCV000929188 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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