ClinVar Miner

Variants studied for Severe combined immunodeficiency due to DCLRE1C deficiency

Coded as:
Minimum submission review status: Collection method:
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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 not provided total
115 40 338 491 51 1 1015

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DCLRE1C 108 39 285 483 26 1 921
LIG4 0 0 52 8 24 0 84
ARID1B 2 1 0 0 0 0 3
DCLRE1C, MEIG1 3 0 0 0 0 0 3
DCLRE1C, SUV39H2 0 0 1 0 1 0 2
DCLRE1C, LOC130003417 1 0 0 0 0 0 1
DCLRE1C, LOC130003418, MEIG1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 99 24 270 480 24 0 897
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 11 10 56 6 7 0 90
Illumina Laboratory Services, Illumina 0 0 52 8 24 0 84
Genome-Nilou Lab 0 0 6 0 6 0 12
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 4 2 0 1 0 11
OMIM 10 0 0 0 0 0 10
Mendelics 1 0 1 0 2 0 4
Cowan and Puck Lab, Allergy Immunology and BMT Division, UCSF Benioff Children's Hospital 3 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Pars Genome Lab 0 0 1 1 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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