ClinVar Miner

Submissions for variant NM_002241.5(KCNJ10):c.*1970GT[23]

dbSNP: rs56656397
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000407692 SCV000349760 likely benign Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000311311 SCV000349761 likely benign Nonsyndromic Hearing Loss, Mixed 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000368280 SCV000349762 likely benign Pendred syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001689970 SCV001913676 benign not provided 2021-05-13 criteria provided, single submitter clinical testing

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