ClinVar Miner

Variants studied for Congenital disorder of deglycosylation

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
89 13 287 320 26 4 731

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NGLY1 88 13 286 320 26 4 729
LOC129936379, NGLY1 0 0 1 0 0 0 1
NGLY1, RARB, TOP2B 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 75 7 284 320 26 0 712
Medical Biochemical Genetics, National Human Genome institute, NIH, National Institutes of Health 9 0 0 0 0 0 9
OMIM 8 0 0 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 2 0 0 0 0 8
Baylor Genetics 2 0 3 0 0 0 5
Fulgent Genetics, Fulgent Genetics 0 1 4 0 0 0 5
GeneReviews 0 0 0 0 0 3 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 1 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
3billion 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Research Laboratories, P. D. Hinduja Hospital & MRC 1 0 0 0 0 0 1

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