ClinVar Miner

Variants studied for congenital disorder of glycosylation type I

Included ClinVar conditions (31):
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
170 113 254 85 101 6 687

Gene and significance breakdown #

Total genes and gene combinations: 34
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PMM2 37 52 26 2 4 0 100
ALG13 2 0 32 19 19 0 72
DOLK 6 0 35 15 7 0 63
ALG6 6 20 20 4 4 0 51
MPI 7 20 13 2 8 1 50
PGM1 11 0 21 13 9 1 48
ALG2 2 0 21 5 7 0 35
DPAGT1 8 0 14 4 1 0 26
ALG12 9 2 8 1 3 0 23
ALG1 8 8 4 2 4 0 22
DPM1 4 0 11 6 1 0 22
ALG8 7 1 4 1 5 0 17
ALG3 10 2 2 0 1 0 15
ADNP, DPM1 5 0 4 3 2 0 14
RFT1 7 1 6 0 0 0 14
DPM2 2 0 6 1 4 0 13
ALG9 4 0 3 1 4 0 12
SRD5A3 6 0 4 1 1 0 12
ALG11 4 0 2 1 3 0 10
DDOST 2 1 2 1 2 2 10
MPDU1 4 3 2 0 2 0 10
ATP6V0A2 1 0 2 1 4 0 8
DPM3 2 0 4 1 1 1 8
CAD 5 1 0 0 0 0 5
NUS1 1 0 4 0 0 0 5
SSR4 5 1 0 0 0 0 5
STT3B 1 0 1 0 2 1 5
ALG11, UTP14C 2 0 0 0 2 0 4
LOC100996842, MPDU1 1 0 1 1 0 0 3
ALG1, EEF2KMT 0 1 0 0 0 0 1
ALG11, ATP7B 0 0 0 0 1 0 1
ALG11, ATP7B, UTP14C 0 0 1 0 0 0 1
DPAGT1, HMBS 0 0 1 0 0 0 1
STT3A 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 22 7 160 65 88 0 342
Counsyl 10 84 48 4 1 0 147
OMIM 134 0 1 0 0 0 135
Illumina Clinical Services Laboratory,Illumina 8 0 30 13 2 0 53
Fulgent Genetics 9 3 9 1 0 0 22
Integrated Genetics/Laboratory Corporation of America 17 4 0 0 0 0 21
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 5 0 0 1 11 0 17
GeneReviews 12 0 0 0 0 0 12
Genome Diagnostics Laboratory,University Medical Center Utrecht 5 1 0 3 1 0 10
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 3 6 0 0 0 10
Baylor Genetics 6 0 2 0 0 0 8
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences 4 4 0 0 0 0 8
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 1 5 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Institute of Human Genetics,Klinikum rechts der Isar 2 2 0 0 0 0 4
Undiagnosed Diseases Network,NIH 1 3 0 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 2 0 0 2 0 4
Lab Thiel (Congenital Disorders of Glycosylation),Center for Child and Adolescent Medicine 4 0 0 0 0 0 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 3 0 0 0 1 0 4
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 3 0 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 3 0 0 0 0 0 3
Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute 3 0 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology 0 2 0 0 0 0 2
Dobyns Lab,Seattle Children's Research Institute 2 0 0 0 0 0 2
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 2 0 0 0 0 2
Medical Genetics Laboratory,Bambino Gesù Children's Hospital 0 2 0 0 0 0 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 2 0 0 0 0 0 2
Biochemistry and Genetic Laboratory,APHP Bichat Claude Bernard Hospital 1 1 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Leiden Muscular Dystrophy (DPM3) 0 0 0 0 0 1 1
Mendelics 0 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics,University of Washington 1 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
DNA Laboratuvarlari GHTM 1 0 0 0 0 0 1

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