ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.260C>T (p.Pro87Leu) (rs1602349021)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001560355 SCV001782747 pathogenic not provided 2020-02-11 criteria provided, single submitter clinical testing The majority of missense variants in this gene are considered pathogenic; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 12614935, 11271367, 9361298)
Inherited Neuropathy Consortium RCV000789184 SCV000928536 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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