ClinVar Miner

Variants in gene KCNJ10

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Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
13 3 107 31 11 1 149

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SeSAME syndrome 11 1 35 10 4 1 60
Nonsyndromic Hearing Loss, Mixed 0 0 52 2 2 0 56
Pendred syndrome 0 0 52 2 2 0 56
Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome 0 0 52 2 2 0 56
not provided 1 2 32 3 1 0 39
not specified 0 0 11 19 7 0 33
History of neurodevelopmental disorder 0 0 5 7 2 0 14
Enlarged vestibular aqueduct; Pendred syndrome; SeSAME syndrome 0 0 4 0 0 0 4
Enlarged vestibular aqueduct 2 1 0 0 0 0 2
Enlarged vestibular aqueduct; SeSAME syndrome 0 0 2 0 0 0 2
KCNJ10-Related Disorders 0 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 53 2 2 0 57
GeneDx 1 2 24 15 8 0 50
Invitae 0 0 35 10 4 0 49
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 17 0 3 0 20
Ambry Genetics 0 0 5 7 2 0 14
OMIM 13 0 0 0 0 0 13
Genetic Services Laboratory, University of Chicago 0 1 5 7 0 0 13
Athena Diagnostics Inc 0 0 4 2 0 0 6
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 0 4
PreventionGenetics 0 0 0 1 2 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1

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