ClinVar Miner

Variants in gene XYLT2

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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 risk factor total
10 6 196 181 45 1 416

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
not provided 9 0 126 171 45 0 348
Inborn genetic diseases 1 1 83 0 0 0 85
XYLT2-related disorder 0 0 8 27 4 0 39
Osteogenesis imperfecta 0 0 18 7 7 0 32
Spondylo-ocular syndrome 2 5 3 0 8 0 18
Autosomal recessive inherited pseudoxanthoma elasticum 0 0 1 0 0 0 1
Autosomal recessive inherited pseudoxanthoma elasticum; Spondylo-ocular syndrome 0 0 1 0 0 0 1
PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF 0 0 0 0 0 1 1
not specified 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Labcorp Genetics (formerly Invitae), Labcorp 8 0 117 168 32 0 325
Ambry Genetics 1 1 83 0 0 0 85
PreventionGenetics, part of Exact Sciences 0 0 8 27 4 0 39
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 18 7 7 0 32
Breakthrough Genomics, Breakthrough Genomics 0 0 1 4 27 0 32
GeneDx 1 0 4 1 21 0 27
Genome-Nilou Lab 0 0 0 0 8 0 8
CeGaT Center for Human Genetics Tuebingen 1 0 1 2 0 0 4
OMIM 2 0 0 0 0 1 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 0 1 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 0 1 0 0 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1

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