ClinVar Miner

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

dbSNP: 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 Autosomal dominant keratitis-ichthyosis-hearing loss syndrome 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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