Variants in gene EGLN1 - ClinVar Miner

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
11	2	614	433	73	1	1085

Condition and significance breakdown #

Total conditions: 8

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	affects	total
not specified	0	0	439	368	8	0	813
Erythrocytosis, familial, 3	11	1	258	153	55	0	472
not provided	0	1	11	18	28	0	57
Familial erythrocytosis	0	0	8	7	3	0	18
Erythrocytosis, familial, 3; Hemoglobin, high altitude adaptation	0	0	11	1	0	0	12
EGLN1-related disorder	0	0	0	5	2	0	7
Hemoglobin, high altitude adaptation	0	0	0	0	0	1	1
Inborn genetic diseases	0	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	affects	total
Ambry Genetics	0	0	436	368	8	0	812
Labcorp Genetics (formerly Invitae), Labcorp	8	1	179	147	13	0	348
Illumina Laboratory Services, Illumina	0	0	90	14	51	0	155
Breakthrough Genomics, Breakthrough Genomics	0	0	2	4	16	0	22
GeneDx	0	0	4	1	16	0	21
CeGaT Center for Human Genetics Tuebingen	0	0	1	13	2	0	16
Fulgent Genetics, Fulgent Genetics	0	0	11	1	0	0	12
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	1	2	2	3	0	8
PreventionGenetics, part of Exact Sciences	0	0	0	5	2	0	7
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	0	0	4	0	1	0	5
OMIM	3	0	0	0	0	1	4
Genetic Services Laboratory, University of Chicago	0	0	0	1	0	0	1
Revvity Omics, Revvity	0	0	1	0	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	1	0	0	0	0	0	1
Clinical Genetics Laboratory, Skane University Hospital Lund	0	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	0	1

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