ClinVar Miner

Variants studied for MPI-congenital disorder of glycosylation

Included ClinVar conditions (1):
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
62 71 97 275 21 1 476

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 not provided total
MPI 62 71 92 275 20 1 470
FAM219B, MPI 0 0 5 0 1 0 6

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 57 12 36 270 15 0 390
Baylor Genetics 5 41 4 0 0 0 50
Illumina Laboratory Services, Illumina 1 0 38 3 7 0 49
Natera, Inc. 1 3 23 10 11 0 48
Counsyl 0 20 10 1 1 0 32
Fulgent Genetics, Fulgent Genetics 2 2 7 2 0 0 13
OMIM 5 0 0 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 3 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 3 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Revvity Omics, Revvity 0 2 1 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 3 0 0 0 0 3
Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute 2 0 0 0 0 0 2
3billion 0 1 1 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Mendelics 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemistry and Genetic Laboratory, APHP Bichat Claude Bernard Hospital 0 1 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1

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