ClinVar Miner

Variants in gene DCLRE1C

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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 total
43 13 225 112 25 385

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Severe combined immunodeficiency due to DCLRE1C deficiency 41 5 131 92 13 281
Histiocytic medullary reticulosis 3 2 99 17 20 132
not provided 3 5 14 13 0 35
not specified 0 0 1 7 9 16
Severe combined immunodeficiency, athabascan-type 1 0 6 1 0 8
none provided 0 0 0 3 4 7
Severe combined immunodeficiency due to DCLRE1C deficiency; Histiocytic medullary reticulosis 1 0 3 0 0 4
Severe combined immunodeficiency disease 0 1 0 0 2 3
Severe combined immunodeficiency, partial 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 31 5 129 97 12 274
Illumina Clinical Services Laboratory,Illumina 0 1 79 7 15 102
Natera, Inc. 1 0 26 11 9 47
OMIM 15 0 0 0 0 15
GeneDx 2 0 3 3 4 12
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 8 2 2 12
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 4 4 8
CeGaT Praxis fuer Humangenetik Tuebingen 1 2 1 2 0 6
Integrated Genetics/Laboratory Corporation of America 0 0 1 1 3 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 3 4
PreventionGenetics, PreventionGenetics 0 0 0 0 4 4
Mendelics 1 0 1 0 2 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 1 1 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 2
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 1
Blueprint Genetics 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Pars Genome Lab 0 0 0 1 0 1

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