ClinVar Miner

Variants studied for disorder of plasmalogens biosynthesis

Included ClinVar conditions (10):
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
46 127 288 50 63 9 539

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
AGPS 5 20 124 23 34 0 197
PEX7 21 63 79 10 11 9 171
GNPAT 13 31 59 8 12 0 115
PEX5 4 11 6 0 3 0 24
AGPS, LOC129935172 0 0 14 8 2 0 20
FAR1 3 2 3 1 0 0 8
GNPAT, LOC129932767 0 0 2 0 1 0 3
DYNC1H1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 199 23 40 0 261
Natera, Inc. 11 1 54 17 11 0 94
Baylor Genetics 15 50 3 0 0 0 68
Fulgent Genetics, Fulgent Genetics 13 25 15 4 2 0 59
Counsyl 0 27 14 1 0 0 42
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 8 12 15 0 35
OMIM 23 0 0 0 0 0 23
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 15 7 0 0 0 0 22
Myriad Genetics, Inc. 2 13 0 0 0 0 15
Genome-Nilou Lab 0 0 2 0 13 0 15
GeneReviews 0 0 0 0 0 8 8
Genetic Services Laboratory, University of Chicago 5 1 0 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 2 0 1 0 6
Elsea Laboratory, Baylor College of Medicine 0 0 4 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 0 2
Revvity Omics, Revvity 0 1 1 0 0 0 2
Mendelics 0 0 0 0 2 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Sección de Genética Clínica, Hospital Clinico Universidad de Chile 0 1 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 1 1
Pars Genome Lab 0 0 0 0 1 0 1
3billion, Medical Genetics 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 1 0 0 0 1

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