ClinVar Miner

Variants in gene PAFAH1B1

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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
144 61 163 184 49 5 569

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 72 17 123 177 47 0 428
Lissencephaly due to LIS1 mutation 92 29 17 1 1 5 142
not specified 1 0 8 10 9 0 26
Lissencephaly 0 11 2 0 0 0 13
Lissencephaly/Subcortical Band Heterotopia 0 0 8 1 1 0 10
PAFAH1B1-related disorder 0 2 3 4 1 0 10
Inborn genetic diseases 1 2 6 0 0 0 9
See cases 2 0 2 1 0 0 5
Intellectual disability 1 2 0 0 0 0 3
Subcortical band heterotopia 3 0 0 0 0 0 3
Abnormal cerebral morphology 0 2 0 0 0 0 2
Abnormal cortical gyration 1 0 0 0 0 0 1
Neurodevelopmental delay 1 0 0 0 0 0 1
PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 62
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 52 10 99 153 21 0 335
Genetic Services Laboratory, University of Chicago 82 13 8 4 4 0 111
GeneDx 24 7 14 22 27 0 94
CeGaT Center for Human Genetics Tuebingen 7 0 4 7 6 0 24
PreventionGenetics, part of Exact Sciences 0 2 3 4 9 0 18
Breakthrough Genomics, Breakthrough Genomics 0 0 1 5 11 0 17
Eurofins Ntd Llc (ga) 2 0 6 3 4 0 15
University of Washington Center for Mendelian Genomics, University of Washington 0 11 2 0 0 0 13
Illumina Laboratory Services, Illumina 0 1 8 1 1 0 11
OMIM 10 0 0 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 4 3 4 0 0 0 10
Ambry Genetics 1 2 6 0 0 0 9
Mendelics 3 2 0 0 0 0 5
3billion 3 2 0 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 1 0 0 4
Baylor Genetics 2 1 0 0 0 0 3
Revvity Omics, Revvity 0 1 2 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 1 0 0 0 3
Athena Diagnostics 0 0 1 0 1 0 2
GeneReviews 0 0 0 0 0 2 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 0 2
ISCA site 4 0 0 1 1 0 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 0 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 1 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 0 1
ISCA site 1 0 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 0 1 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Medical Genetics Laboratory, Niloo Shiraz Laboratory 1 0 0 0 0 0 1

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