ClinVar Miner

Submissions for variant NM_002241.5(KCNJ10):c.*52G>A

gnomAD frequency: 0.00007  dbSNP: rs148441646
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000272817 SCV000349826 uncertain significance Nonsyndromic Hearing Loss, Mixed 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000325700 SCV000349827 uncertain significance Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000364085 SCV000349828 uncertain significance Pendred syndrome 2016-06-14 criteria provided, single submitter clinical testing

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