ClinVar Miner

Variants in gene XPR1

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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 total
4 3 127 103 56 282

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 0 2 95 98 56 242
Inborn genetic diseases 0 0 32 0 0 32
Basal ganglia calcification, idiopathic, 6 4 1 11 1 1 18
not specified 0 0 8 3 0 11
XPR1-related disorder 0 0 0 4 1 5
See cases 0 0 1 0 0 1
XPR1-related primary familial brain calcification 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 70 82 20 172
GeneDx 0 0 22 13 45 80
Ambry Genetics 0 0 32 0 0 32
Breakthrough Genomics, Breakthrough Genomics 0 0 0 6 22 28
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 8 3 0 11
PreventionGenetics, part of Exact Sciences 0 0 0 4 1 5
CeGaT Center for Human Genetics Tuebingen 0 1 3 1 0 5
OMIM 4 0 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 1 1 1 3
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 2
Baylor Genetics 0 0 1 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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