ClinVar Miner

Variants in gene KCNJ6

Minimum submission review status: Collection method:
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Gene type:
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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
2 2 66 41 12 1 122

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 0 0 44 38 12 0 94
Inborn genetic diseases 0 0 14 2 0 0 16
Keppen-Lubinsky syndrome 2 1 6 0 2 1 12
not specified 0 0 4 2 0 0 6
KCNJ6-related disorder 0 0 2 1 0 0 3
See cases 0 1 1 0 0 0 2
Schizophrenia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 19 37 6 0 62
GeneDx 0 0 22 1 8 0 31
Ambry Genetics 0 0 14 2 0 0 16
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 8 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 4 2 0 0 6
CeGaT Center for Human Genetics Tuebingen 0 0 2 3 0 0 5
PreventionGenetics, part of Exact Sciences 0 0 2 1 0 0 3
OMIM 2 0 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
TIDEX, University of British Columbia 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Department of Psychiatry, The University of Hong Kong 0 0 1 0 0 0 1

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