ClinVar Miner

Variants studied for Non-ketotic hyperglycinemia

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 total
86 165 227 32 20 472

Gene and significance breakdown #

Total genes and gene combinations: 6
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GLDC 59 124 155 24 13 331
AMT 23 33 52 4 3 102
GCSH 1 1 8 3 4 17
AMT, NICN1 1 5 10 1 0 16
GLDC, LOC113839554 2 2 1 0 0 5
GLDC, KDM4C, LINC02851, LOC111413010 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 24
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 47 13 107 10 11 188
Counsyl 13 60 69 4 0 146
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 95 0 0 0 96
Illumina Clinical Services Laboratory,Illumina 2 0 61 14 9 86
OMIM 20 0 0 0 0 20
Integrated Genetics/Laboratory Corporation of America 7 4 0 0 0 11
Mendelics 4 1 2 2 0 9
Fulgent Genetics,Fulgent Genetics 3 0 4 0 0 7
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 1 0 2 4 7
GeneReviews 6 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 2 0 0 5
Baylor Genetics 3 1 0 0 0 4
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 0 2 0 0 4
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 1 0 0 0 3
Ege University Pediatric Genetics,Ege University 1 0 2 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 1 2
Institute of Human Genetics,Klinikum rechts der Isar 1 1 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 2 0 0 2
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 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.