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
131 178 365 129 62 751

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GLDC 95 135 237 103 46 530
AMT 28 35 85 20 8 153
GCSH 1 1 25 4 7 37
AMT, NICN1 4 6 16 2 1 25
GLDC, LOC113839554 3 1 1 0 0 5
GLDC, KDM4C, LINC02851, LOC111413010 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 total
Invitae 98 26 207 100 50 481
Illumina Clinical Services Laboratory,Illumina 2 0 112 26 25 165
Counsyl 13 60 69 4 0 146
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 95 0 0 0 96
OMIM 20 0 0 0 0 20
Integrated Genetics/Laboratory Corporation of America 11 6 0 0 0 17
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 3 0 2 0 0 5
Baylor Genetics 3 1 0 0 0 4
Elsea Laboratory,Baylor College of Medicine 0 0 4 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
Institute of Human Genetics, University of Leipzig Medical Center 0 2 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

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