Variants studied for Short stature, microcephaly, and endocrine dysfunction

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
10	6	8	6	1	29

Gene and significance breakdown #

Total genes and gene combinations: 2

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
XRCC4	10	5	8	6	1	28
XRCC2	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 11

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Fulgent Genetics, Fulgent Genetics	0	3	7	6	0	16
OMIM	9	0	0	0	0	9
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	1	1	0	0	0	2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	0	2	0	0	2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	0	2	0	0	0	2
Baylor Genetics	0	1	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	0	1	0	0	1
Génétique des Maladies du Développement, Hospices Civils de Lyon	1	0	0	0	0	1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	1	0	0	0	1
Genome-Nilou Lab	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.