ClinVar Miner

Variants studied for glyceronephosphate O-acyltransferase deficiency

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 total
12 28 57 8 13 112

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
GNPAT 12 28 55 8 12 109
GNPAT, LOC129932767 0 0 2 0 1 3

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 49 3 9 61
Baylor Genetics 5 25 1 0 0 31
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 5 9 18
OMIM 9 0 0 0 0 9
Fulgent Genetics, Fulgent Genetics 0 0 3 1 1 5
Revvity Omics, Revvity 0 1 1 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Mendelics 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Sección de Genética Clínica, Hospital Clinico Universidad de Chile 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 1 0 0 1

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