ClinVar Miner

Variants studied for Propionic acidemia

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
214 173 471 565 46 1 1324

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PCCA 113 88 233 299 32 0 684
PCCB 97 84 231 262 14 1 624
GGACT, PCCA 4 0 7 4 0 0 15
LOC112163638, PCCA 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 145 69 293 547 34 0 1088
Natera, Inc. 28 7 93 22 16 0 166
Counsyl 12 62 44 9 0 0 127
Illumina Laboratory Services,Illumina 2 1 98 9 6 0 116
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 30 8 0 0 0 0 38
Laboratory of Metabolic Disorders, Peking University First Hospital 12 17 0 0 0 0 29
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 26 0 0 0 2 0 28
GeneReviews 18 0 0 0 3 0 21
Genome-Nilou Lab 0 0 13 1 6 0 20
PerkinElmer Genomics 8 8 0 0 0 0 16
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 9 4 3 0 0 0 16
OMIM 15 0 0 0 0 0 15
Mendelics 11 0 2 0 1 0 14
Baylor Genetics 6 3 3 0 0 0 12
Pars Genome Lab 0 0 0 1 8 0 9
3billion 2 2 1 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 0 0 3 0 4
Fulgent Genetics,Fulgent Genetics 2 0 2 0 0 0 4
Myriad Women's Health, Inc. 1 2 1 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 1 0 0 0 3
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 1 0 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 0 0 1 0 0 3
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 2
Kasturba Medical College, Manipal, Manipal Academy of Higher Education 0 2 0 0 0 0 2
Ege University Pediatric Genetics,Ege University 1 1 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 1 0 0 0 2
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 2 0 0 0 0 0 2
DASA 2 0 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd,Neuberg Centre for Genomic Medicine 1 0 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Elsea Laboratory,Baylor College of Medicine 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Division of Genetic Medicine, Lausanne University Hospital 0 0 0 0 1 0 1
New York Genome Center 1 0 0 0 0 0 1

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