ClinVar Miner

Variants in gene GALT

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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 other not provided total
269 122 182 63 41 3 3 534

Condition and significance breakdown #

Total conditions: 9
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 255 103 107 52 40 0 0 451
not provided 58 23 69 6 2 3 3 153
not specified 4 3 26 13 9 0 0 54
Galactosemia 7 2 19 3 5 0 0 36
Classical galactosemia, homozygous Duarte-type 1 0 0 0 0 0 0 1
GALT POLYMORPHISM 0 0 0 0 1 0 0 1
GALT POLYMORPHISM (DUARTE, D2) 0 0 0 0 1 0 0 1
GALT POLYMORPHISM (LOS ANGELES, D1) 0 0 0 0 1 0 0 1
Premature ovarian failure 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Research and Development, ARUP Laboratories 223 1 6 1 33 0 0 264
Invitae 60 21 44 49 7 0 0 181
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 51 14 52 2 5 3 0 127
Counsyl 5 53 40 3 1 0 0 102
Integrated Genetics/Laboratory Corporation of America 28 15 38 10 8 0 0 99
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 13 9 7 1 8 0 0 38
Natera, Inc. 5 2 19 2 5 0 0 33
Illumina Clinical Services Laboratory,Illumina 0 1 25 4 3 0 0 33
Baylor Genetics 21 6 1 0 0 0 0 28
GeneDx 12 8 0 1 2 0 0 23
OMIM 14 0 0 0 3 0 0 17
Myriad Women's Health, Inc. 5 10 0 0 0 0 0 15
GeneReviews 7 0 0 0 7 0 0 14
Mendelics 3 5 0 0 4 0 0 12
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 8 0 0 0 1 0 0 9
PreventionGenetics, PreventionGenetics 0 0 0 2 5 0 0 7
Fulgent Genetics,Fulgent Genetics 5 1 0 0 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 5 0 0 1 0 0 0 6
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 5 0 0 0 0 5
LifeCell International Pvt. Ltd 3 0 0 0 1 0 0 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 2 0 0 0 0 0 3
Seelig Lab,University of Washington 0 0 0 0 0 0 3 3
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 1 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 0 1
Elsea Laboratory,Baylor College of Medicine 0 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 1 0 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 0 1
Nilou-Genome Lab 0 0 0 0 1 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.