Variants studied for obsolete autosomal dominant secondary polycythemia

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	total
11	2	321	152	120	595

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
EGLN1	7	1	237	127	55	420
EPAS1	4	1	56	10	56	124
EGLN1, LOC129932769	0	0	16	12	3	30
EPAS1, LOC129933655	0	0	9	1	2	12
EPAS1, LOC126806210	0	0	3	2	4	9

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	4	1	174	132	15	326
Illumina Laboratory Services, Illumina	0	0	141	16	111	268
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	1	1	4	6	12
OMIM	6	0	0	0	0	6
Revvity Omics, Revvity	0	0	4	0	0	4
Fulgent Genetics, Fulgent Genetics	0	0	2	1	0	3
Neuberg Centre For Genomic Medicine, NCGM	0	0	3	0	0	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	2	0	0	0	0	2
Johns Hopkins Genomics, Johns Hopkins University	1	0	1	0	0	2
Mendelics	0	0	0	1	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	0	0	1

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