ClinVar Miner

Submissions for variant NM_002241.4(KCNJ10):c.-183C>T

gnomAD frequency: 0.00047  dbSNP: rs374287142
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000381065 SCV000349857 uncertain significance Nonsyndromic Hearing Loss, Mixed 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000346004 SCV000349859 uncertain significance Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome 2016-06-14 criteria provided, single submitter clinical testing

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