ClinVar Miner

Variants in gene KLHL15

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Minimum submission review status: Collection method:
Minimum conflict level:
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 total
3 1 47 22 3 76

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 1 0 20 14 3 38
not specified 0 0 17 6 0 23
Intellectual disability, X-linked 103 2 0 10 0 0 12
KLHL15-related disorder 0 0 2 2 1 5
Abnormal brain morphology 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
CeGaT Center for Human Genetics Tuebingen 0 0 5 13 0 18
GeneDx 1 0 13 0 1 15
Ambry Genetics 0 0 14 0 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 6 0 9
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 4 2 6
PreventionGenetics, part of Exact Sciences 0 0 2 2 1 5
Baylor Genetics 0 0 3 0 0 3
OMIM 2 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1

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