ClinVar Miner

Variants in gene EGLN1

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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 affects total
7 1 483 341 71 1 875

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects total
Hereditary cancer-predisposing syndrome 0 0 293 281 6 0 580
Erythrocytosis, familial, 3 7 1 237 126 55 0 420
not provided 0 0 5 5 19 0 29
Familial erythrocytosis 0 0 8 7 3 0 18
Inborn genetic diseases 0 0 14 3 0 0 17
not specified 0 0 2 1 1 0 4
Erythrocytosis, familial, 3; Hemoglobin, high altitude adaptation 0 0 2 1 0 0 3
Hemoglobin, high altitude adaptation 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects total
Ambry Genetics 0 0 307 284 6 0 597
Invitae 4 1 158 120 13 0 296
Illumina Laboratory Services, Illumina 0 0 90 14 51 0 155
GeneDx 0 0 3 1 16 0 20
CeGaT Center for Human Genetics Tuebingen 0 0 1 4 2 0 7
OMIM 3 0 0 0 0 1 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 3 0 3
Fulgent Genetics, Fulgent Genetics 0 0 2 1 0 0 3
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 2 0 1 0 3
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 1
Revvity Omics, Revvity Omics 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1

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