Variants studied for Deficiency of galactokinase

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
62	74	94	297	21	488

Gene and significance breakdown #

Total genes and gene combinations: 3

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
GALK1	61	74	89	295	16	476
GALK1, ITGB4	1	0	4	2	5	11
GALK1, LOC130061683	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 20

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	55	10	40	285	14	404
Natera, Inc.	4	0	15	17	5	41
Illumina Laboratory Services, Illumina	0	0	29	5	7	41
Baylor Genetics	5	31	0	0	0	36
Counsyl	2	11	21	1	0	35
Fulgent Genetics, Fulgent Genetics	4	17	0	0	0	21
Myriad Genetics, Inc.	0	16	1	0	0	17
Genome-Nilou Lab	0	1	4	2	3	10
Revvity Omics, Revvity	3	2	3	0	0	8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	4	3	0	0	0	7
OMIM	6	0	0	0	0	6
Mendelics	0	2	1	0	1	4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	2	0	0	0	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	1	0	0	0	0	1
Molecular Genetics Laboratory, Institute for Ophthalmic Research	1	0	0	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	0	0	0	1
3billion, Medical Genetics	1	0	0	0	0	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	0	1	0	0	1
Department of Human Genetics, Hannover Medical School	1	0	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	0	0	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.