ClinVar Miner

Variants in gene SLC9A6

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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
51 29 228 216 57 523

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Christianson syndrome 36 17 143 161 44 391
not provided 16 11 98 48 17 182
not specified 0 0 12 27 18 54
Inborn genetic diseases 1 1 16 14 8 40
SLC9A6-related disorder 0 1 1 6 1 9
Intellectual disability 2 0 2 3 0 7
History of neurodevelopmental disorder 0 0 1 1 0 2
Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment 2 0 0 0 0 2
Astigmatism; Leukodystrophy; Motor delay; Seizure; Short stature; Hypermetropia; Delayed speech and language development; Open mouth; Microcephaly; Strabismus; Amblyopia; EEG with generalized slow activity; Allergy 0 0 1 0 0 1
Global developmental delay; Seizure; Sleep abnormality; Scoliosis; Recurrent respiratory infections; Gastrostomy tube feeding in infancy 0 1 0 0 0 1
See cases 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 17 6 130 157 38 348
GeneDx 14 4 78 49 28 173
Ambry Genetics 1 1 17 15 8 42
CeGaT Center for Human Genetics Tuebingen 1 6 6 13 0 26
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 3 0 2 11 9 25
Genetic Services Laboratory, University of Chicago 2 1 8 4 8 23
Eurofins Ntd Llc (ga) 2 1 11 1 7 22
Breakthrough Genomics, Breakthrough Genomics 0 0 0 6 7 13
PreventionGenetics, part of Exact Sciences 0 1 1 6 4 12
Athena Diagnostics 0 0 4 2 5 11
OMIM 10 0 0 0 0 10
Revvity Omics, Revvity 1 0 5 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 2 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 1 2 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 4 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 3 3
Mendelics 0 1 0 0 2 3
Fulgent Genetics, Fulgent Genetics 0 0 1 1 1 3
Diagnostic Laboratory, Strasbourg University Hospital 1 0 1 1 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 1 3
3billion 0 1 1 1 0 3
Centogene AG - the Rare Disease Company 0 1 1 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 2 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 1 0 2
New York Genome Center 0 0 2 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 2
Baylor Genetics 0 0 1 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 1
Institute of Human Genetics, University of Ulm 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 1
Raymond Lab, University of Cambridge 1 0 0 0 0 1
Pediatric Neurology, Northwest Women’s and Children’s Hospital 1 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 1 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 1 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 1

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