ClinVar Miner

Submissions for variant NM_002241.5(KCNJ10):c.*1970GT[22]

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 RCV000269859 SCV000349766 uncertain significance Pendred syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000323131 SCV000349767 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 RCV000380060 SCV000349768 uncertain significance Nonsyndromic Hearing Loss, Mixed 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001536663 SCV001753455 benign not provided 2021-05-12 criteria provided, single submitter clinical testing

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