ClinVar Miner

Variants studied for ALG8-congenital disorder of glycosylation

Included ClinVar conditions (2):
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
21 13 92 56 19 179

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ALG8 21 13 92 55 18 177
ALG8, LOC130006492 0 0 0 1 1 2

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 10 4 63 51 14 142
Illumina Laboratory Services, Illumina 0 0 28 2 4 34
Fulgent Genetics, Fulgent Genetics 3 8 13 8 0 32
OMIM 8 0 0 0 0 8
Baylor Genetics 1 1 5 0 0 7
Genome-Nilou Lab 0 0 0 0 6 6
MGZ Medical Genetics Center 0 0 2 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 1 1 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 2
Hadassah Hebrew University Medical Center 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 1
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences 1 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 1 0 0 0 0 1
Medical Genetics, Christian Medical College 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 1

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