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:
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 not provided total
104 38 335 490 51 1 1000

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DCLRE1C 99 38 282 482 26 1 909
LIG4 0 0 52 8 24 0 84
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
Invitae 91 23 269 480 24 0 887
Illumina Laboratory Services, Illumina 0 0 52 8 24 0 84
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 10 10 38 4 6 0 68
Genome-Nilou Lab 0 0 6 0 6 0 12
OMIM 10 0 0 0 0 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 3 2 0 1 0 7
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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