ClinVar Miner

Variants in gene GALT

Minimum submission review status: Collection method:
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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
255 104 137 36 41 3 3 451

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 240 85 63 5 36 0 0 343
not provided 57 23 64 22 8 3 3 169
not specified 4 3 15 12 9 0 0 42
Galactosemia 1 0 7 4 0 0 0 12
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

Submitter and significance breakdown #

Total submitters: 26
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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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 51 14 52 2 5 3 0 127
Counsyl 10 56 40 3 1 0 0 110
Invitae 26 9 21 20 7 0 0 83
Integrated Genetics/Laboratory Corporation of America 22 15 27 9 8 0 0 81
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 13 9 7 1 8 0 0 38
Baylor Genetics 21 6 0 0 0 0 0 27
GeneDx 12 8 0 1 2 0 0 23
OMIM 14 0 0 0 3 0 0 17
GeneReviews 11 0 0 0 6 0 0 17
Illumina Clinical Services Laboratory,Illumina 0 1 9 4 0 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
Seelig Lab,University of Washington 0 0 0 0 0 0 3 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 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
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 0 1

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