ClinVar Miner

Variants studied for Christianson syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
40 21 186 192 46 472

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SLC9A6 39 21 159 175 44 426
LOC130068747, SLC9A6 0 0 11 13 0 23
LOC130068746, SLC9A6 0 0 15 4 2 21
ADGRG4, ARHGEF6, BRS3, CD40LG, FHL1, GPR101, HTATSF1, MAP7D3, RBMX, SLC9A6, VGLL1, ZIC3 1 0 0 0 0 1
FHL1, SLC9A6 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 22 6 165 185 39 417
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 3 0 5 11 11 30
OMIM 9 0 0 0 0 9
3billion 1 1 4 1 0 7
Genetic Services Laboratory, University of Chicago 2 1 3 0 0 6
Revvity Omics, Revvity 1 0 4 1 0 6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 5 5
Fulgent Genetics, Fulgent Genetics 0 0 1 1 1 3
Mendelics 0 1 0 0 2 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 3
Baylor Genetics 0 0 2 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 1 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 1 1 0 0 0 2
New York Genome Center 0 0 2 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 2 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 2
Centre for Medical Genetics, Mumbai 0 0 0 1 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 1 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Genome-Nilou Lab 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Institute of Human Genetics, University of Ulm 0 1 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
Medical Genetics, Karadeniz Technical University 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 1
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 1 0 0 1
Pediatric Neurology, Northwest Women’s and Children’s Hospital 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1

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