Variants studied for Hereditary pheochromocytoma-paraganglioma

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	not provided	total
174	60	1088	594	111	9	2008

Gene and significance breakdown #

Total genes and gene combinations: 17

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
TMEM127	36	9	292	178	7	0	522
SDHAF2	20	10	278	143	20	0	460
MAX	16	2	132	109	1	1	260
SDHB	52	24	98	28	9	1	205
SDHC	6	9	73	24	26	0	135
LOC129934333, TMEM127	18	0	76	33	1	0	128
SDHD	12	5	72	16	2	5	107
SDHA	1	1	14	10	43	1	70
LOC100506321, MAX	3	0	27	28	0	0	58
LOC130055850, MAX	3	0	10	17	0	0	30
LOC126861339, SDHD	1	0	7	6	0	1	14
LOC129929542, SDHB	2	0	6	2	1	0	11
LOC110121224, LOC129934333, TMEM127	2	0	2	0	0	0	4
DAGLA, LRRC10B, MYRF, SAXO4, SDHAF2, SYT7	1	0	0	0	0	0	1
LOC100506321, LOC130055850, MAX	1	0	0	0	0	0	1
LOC129929541, SDHB	0	0	1	0	0	0	1
MPZ, SDHC	0	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 13

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	100	15	792	503	18	0	1428
All of Us Research Program, National Institutes of Health	23	14	257	79	2	0	375
Illumina Laboratory Services, Illumina	0	0	80	22	93	0	195
Section on Medical Neuroendocrinolgy, National Institutes of Health	59	13	8	0	0	0	80
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	21	7	0	0	0	1	29
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	11	16	0	0	0	0	27
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	1	0	7	0	0	0	8
GeneReviews	0	0	0	0	0	6	6
Genetics and Molecular Pathology, SA Pathology	2	1	0	0	0	0	3
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	2	2
CSER _CC_NCGL, University of Washington	0	0	1	0	0	0	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	0	1	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1

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. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.