Variants studied for Chuvash polycythemia; Von Hippel-Lindau syndrome

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)

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	not provided	total
229	67	838	385	19	4	1538

Gene and significance breakdown #

Total genes and gene combinations: 6

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
LOC107303340, VHL	119	41	439	216	10	2	825
VHL	103	26	394	169	9	2	701
BRK1, FANCD2, FANCD2OS, VHL	2	0	3	0	0	0	5
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, LOC129936148, LOC129936149, VHL	2	0	2	0	0	0	4
FANCD2, VHL	2	0	0	0	0	0	2
IRAK2, VHL	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 2

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	229	67	838	385	19	0	1538
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	4	4

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.