ClinVar Miner

Variants studied for Deficiency of guanidinoacetate methyltransferase

Coded as:
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 not provided total
40 63 113 23 14 9 229

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 not provided total
GAMT 29 47 90 18 9 7 174
GAMT, LOC130062945 11 16 23 2 1 1 48
GAMT, NDUFS7 0 0 0 3 4 1 7

Submitter and significance breakdown #

Total submitters: 33
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen 23 31 31 7 7 0 99
Natera, Inc. 8 3 68 6 6 0 91
Baylor Genetics 22 24 5 0 0 0 51
Illumina Laboratory Services, Illumina 4 0 27 10 5 0 46
Fulgent Genetics, Fulgent Genetics 8 21 15 0 0 0 44
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 12 5 0 0 0 0 17
Revvity Omics, Revvity 4 4 5 0 0 0 13
OMIM 7 0 0 0 0 0 7
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 6 6
GeneReviews 0 0 0 0 0 5 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 1 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 2 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 0 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 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.