ClinVar Miner

Variants studied for periventricular nodular heterotopia

Included ClinVar conditions (20):
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 risk factor not provided total
159 91 1027 1271 491 3 5 2979

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
FLNA 115 54 741 1178 446 0 4 2486
ARFGEF2 8 3 135 3 13 0 1 162
FLNA, LOC107988032 7 3 41 52 26 0 0 126
NEDD4L 5 7 51 29 3 0 0 93
MAP1B 11 12 28 2 1 3 0 50
ERMARD 1 4 7 3 1 0 0 16
ARF1, LOC126806039 8 4 5 0 0 0 0 15
ARFGEF2, LOC130066080 0 0 4 0 1 0 0 5
EMD, FLNA 1 0 4 0 0 0 0 5
DNASE1L1, EMD, FLNA, RPL10, TAFAZZIN 0 0 4 0 0 0 0 4
LOC130062568, NEDD4L 0 0 1 3 0 0 0 4
ATP2B1 0 2 0 0 0 0 0 2
LOC126862763, NEDD4L 0 0 1 1 0 0 0 2
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275 1 0 0 0 0 0 0 1
ABCD1, ARHGAP4, AVPR2, BCAP31, FLNA, HCFC1, IDH3G, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNB3, RENBP, SRPK3, SSR4, TEX28, TKTL1, TMEM187 0 0 1 0 0 0 0 1
ARF1 0 1 0 0 0 0 0 1
ARHGAP4, ATP6AP1, AVPR2, DNASE1L1, EMD, FLNA, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, RPL10, TAFAZZIN, TEX28, TKTL1, TMEM187 0 0 1 0 0 0 0 1
ATP6AP1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, RPL10, SLC10A3, TAFAZZIN, UBL4A 0 0 1 0 0 0 0 1
BAG6 0 0 1 0 0 0 0 1
BRCA1 1 0 0 0 0 0 0 1
FLNA, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 0 0 1 0 0 0 0 1
LOC129994023, MAP1B 1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 88
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 87 25 750 1218 472 0 0 2552
Illumina Laboratory Services, Illumina 0 0 127 3 9 0 0 139
Fulgent Genetics, Fulgent Genetics 0 0 46 51 7 0 0 104
OMIM 32 0 1 0 0 0 0 33
Claritas Genomics 8 15 6 0 0 0 0 29
New York Genome Center 0 1 20 0 0 0 0 21
Baylor Genetics 4 1 12 0 0 0 0 17
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 8 0 0 0 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 9 3 0 0 0 12
Revvity Omics, Revvity 1 2 7 0 0 0 0 10
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 7 3 0 0 0 0 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 3 4 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 3 2 2 0 0 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 3 0 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 5 0 0 0 0 6
Genome-Nilou Lab 0 0 0 0 6 0 0 6
3billion 2 4 0 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 4 0 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 3 2 0 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 2 3 0 0 0 0 5
Institute of Human Genetics, University of Goettingen 0 0 4 0 0 0 0 4
Centogene AG - the Rare Disease Company 0 0 4 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
Clinical Genetics Group, University of Otago 4 0 0 0 0 0 0 4
Epi4K Consortium 0 4 0 0 0 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 3 0 0 0 0 4
MGZ Medical Genetics Center 0 0 3 0 0 0 0 3
Mendelics 2 0 0 0 1 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 3 0 0 0 0 3
Centre of Medical Genetics, University of Antwerp 0 0 3 0 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 2 0 0 0 0 3
deCODE genetics, Amgen 0 0 0 0 0 3 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 3 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 0 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 1 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 1 0 0 0 2
Kids Research, The Children's Hospital at Westmead 0 2 0 0 0 0 0 2
Breda Genetics srl 0 0 2 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 0 2
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 2 0 0 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 0 1 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 1 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 1 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 1 0 0 0 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 0 1
Dobyns Lab, Seattle Children's Research Institute 0 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 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 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 0 1
Genetics Division, Universidade Federal de Sao Paulo 0 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 1
Molecular Genetics Center, Sichuan Provincial People's Hospital 0 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 1 0 0 0 0 0 1
Sezerman Lab, Dept of Biostatistics and Bioinformatics, Acibadem Mehmet Ali Aydinlar University 0 1 0 0 0 0 0 1
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 1 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 0 1
Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb 0 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 0 1
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 1 0 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1

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