ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.244A>G (p.Ile82Val) (rs1566528711)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
FAHD UNIT, Department of Genetics,King Faisal Specialist Hospital and Research Centre RCV000735855 SCV000747136 likely pathogenic Keratitis-ichthyosis-deafness syndrome, autosomal dominant 2018-05-07 no assertion criteria provided clinical testing The variant is causing keratitis-ichthyosis-deafness (KID) syndrome in three siblings, born to first-cousin healthy parents. The affected presented with the classic phenotypic triad of KID syndrome including diffuse hyperkeratotic erythroderma, neurosensory hearing loss and vascularizing keratitis.

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