ClinVar Miner

Variants in gene ANKRD17

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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 association not provided total
15 26 291 40 5 1 1 373

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
not provided 4 2 115 13 4 0 0 138
Inborn genetic diseases 2 0 117 17 0 0 0 136
Chopra-Amiel-Gordon syndrome 10 22 32 1 0 0 1 65
ANKRD17-related disorder 0 0 24 7 1 0 0 32
not specified 0 0 12 4 0 0 0 16
Intellectual disability 0 1 0 0 0 0 0 1
Lip and oral cavity carcinoma 0 0 0 0 0 1 0 1
Neurodevelopmental delay 0 1 0 0 0 0 0 1
See cases 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Ambry Genetics 2 0 117 17 0 0 0 136
GeneDx 1 0 93 0 0 0 0 94
PreventionGenetics, part of Exact Sciences 0 0 24 7 1 0 0 32
CeGaT Center for Human Genetics Tuebingen 1 0 9 12 4 0 0 26
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 11 4 0 0 0 15
Labcorp Genetics (formerly Invitae), Labcorp 2 1 6 1 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 2 2 5 0 0 0 0 9
SIB Swiss Institute of Bioinformatics 0 7 0 0 0 0 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 6 0 0 0 0 7
OMIM 5 0 0 0 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 5 0 0 0 0 5
3billion 0 2 2 1 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 3 0 0 0 0 4
MVZ Medizinische Genetik Mainz 0 0 4 0 0 0 0 4
Revvity Omics, Revvity 0 0 3 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 2 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 0 1
Department of Biological Science, Sunandan Divatia School of Science, NMIMS University 0 0 0 0 0 1 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1

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