ClinVar Miner

Submissions for variant NM_002241.5(KCNJ10):c.*1970GT[27]

dbSNP: rs56656397
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000321910 SCV000349751 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 RCV000264404 SCV000349752 uncertain significance Pendred syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000339739 SCV000349753 uncertain significance Nonsyndromic Hearing Loss, Mixed 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000264404 SCV000349769 uncertain significance Pendred syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000321910 SCV000349770 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 RCV000339739 SCV000349771 uncertain significance Nonsyndromic Hearing Loss, Mixed 2016-06-14 criteria provided, single submitter clinical testing

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