ClinVar Miner

Variants in gene CSF2RB

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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
2 1 406 270 62 719

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 0 0 377 258 62 688
Inborn genetic diseases 0 0 79 3 0 82
CSF2RB-related disorder 0 1 3 23 3 30
not specified 0 0 4 1 14 19
Surfactant metabolism dysfunction, pulmonary, 5 2 0 13 1 0 16

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 374 235 35 644
Ambry Genetics 0 0 79 3 0 82
GeneDx 0 0 7 19 37 63
Breakthrough Genomics, Breakthrough Genomics 0 0 7 12 30 49
PreventionGenetics, part of Exact Sciences 0 1 3 23 3 30
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 4 1 14 19
CeGaT Center for Human Genetics Tuebingen 0 0 0 4 0 4
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 1 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 0 3
OMIM 2 0 0 0 0 2
Baylor Genetics 0 0 2 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 1

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