ClinVar Miner

Variants studied for T-B+ severe combined immunodeficiency due to JAK3 deficiency

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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 not provided total
83 31 361 614 58 1 1092

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
JAK3 83 31 360 614 58 1 1091
INSL3, JAK3, RPL18A, SLC5A5 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 75 18 270 599 45 0 1007
Illumina Laboratory Services, Illumina 0 0 99 14 23 0 136
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 4 3 7 6 6 0 26
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 1 3 0 0 0 9
OMIM 7 0 0 0 0 0 7
Baylor Genetics 1 1 5 0 0 0 7
Fulgent Genetics, Fulgent Genetics 1 0 3 2 1 0 7
Revvity Omics, Revvity 1 3 2 0 0 0 6
Mendelics 2 1 0 1 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Genomics Facility, Ludwig-Maximilians-Universität München 1 1 0 0 0 0 2
Eurofins-Biomnis 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 1 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Laboratory of Pediatric Immunoinfectivology, Tor Vergata University 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 0 1 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
3billion 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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