ClinVar Miner

Variants studied for inherited cutis laxa

Included ClinVar conditions (36):
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
230 159 1438 1367 360 62 3453

Gene and significance breakdown #

Total genes and gene combinations: 31
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATP7A 64 76 420 829 134 1 1501
ALDH18A1 30 17 298 155 25 3 497
SLC2A10 27 18 227 170 35 20 448
EFEMP2 21 12 128 145 18 9 305
ATP6V0A2 10 2 98 10 42 8 167
ELN 7 5 57 21 50 3 138
LTBP4 12 6 67 6 26 5 119
GORAB 9 5 63 3 14 0 91
EFEMP2, MUS81 1 0 29 14 3 2 45
PYCR1 20 9 6 1 2 1 38
FBLN5 7 0 14 0 2 8 23
RIN2 4 2 7 9 3 0 23
ATP6V0A2, LOC130009117 0 1 6 1 1 0 9
ATP6V1A 2 2 2 1 0 0 7
ATP6V0A2, LOC126861666 0 1 3 0 1 1 5
ATP7A, PGK1 0 0 3 1 1 0 5
LOC121627876, LTBP4 0 0 2 1 2 1 5
LOC130064475, LTBP4 3 0 2 0 0 0 5
LTBP1 4 2 0 0 0 0 5
EFEMP1 4 0 0 0 0 0 4
ATP6V1E1 2 0 0 0 0 0 2
ATP7A, ATRX, COX7B, MAGT1, PGAM4 1 0 1 0 0 0 2
ALDH18A1, ENTPD1, TCTN3 1 0 0 0 0 0 1
ALDH18A1, LOC121815958 1 0 0 0 0 0 1
ATP6V0A2, LOC130009117, TCTN2 0 0 0 0 1 0 1
ATP7A, ATRX, COX7B, MAGT1, PGAM4, PGK1 0 0 1 0 0 0 1
ATP7A, COX7B, MAGT1, PGAM4 0 0 1 0 0 0 1
B4GAT1, BANF1, BRMS1, C11orf68, CATSPER1, CCDC85B, CD248, CNIH2, CST6, CTSW, DRAP1, EFEMP2, EIF1AD, FIBP, FOSL1, GAL3ST3, KLC2, LOC111413017, LOC112081411, LOC116216147, LOC116216148, LOC121832794, LOC124500674, LOC126861238, LOC130006078, LOC130006079, LOC130006080, LOC130006081, LOC130006082, LOC130006083, LOC130006084, LOC130006085, LOC130006086, LOC130006087, LOC130006088, LOC130006089, LOC130006090, LOC130006091, LOC130006092, LOC130006093, LOC130006094, LOC130006095, LOC130006096, LOC130006097, LOC130006098, LOC130006099, LOC130006100, LOC130006101, LOC130006102, LOC130006103, LOC130006104, LOC130006105, LOC130006106, LOC130006107, LOC130006108, LOC130006109, LOC130006110, LOC130006111, LOC130006112, LOC130006113, LOC130006114, LOC130006115, MUS81, PACS1, RAB1B, RIN1, SART1, SF3B2, SNORD13F, TMEM151A, TSGA10IP, YIF1A 0 0 1 0 0 0 1
GBE1 0 1 0 0 0 0 1
LOC130061991, PYCR1 0 0 1 0 0 0 1
LOC130064472, LTBP4 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 84
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 104 33 935 1278 181 0 2531
Illumina Laboratory Services, Illumina 2 0 378 53 173 0 606
OMIM 91 0 0 0 0 0 91
Fulgent Genetics, Fulgent Genetics 1 3 56 19 5 0 84
Genome-Nilou Lab 1 1 32 2 43 0 79
Myriad Genetics, Inc. 0 61 0 0 0 0 61
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 1 14 12 20 0 49
GeneReviews 1 0 0 0 1 47 49
Baylor Genetics 6 3 26 0 0 0 35
3billion 4 7 2 14 0 0 27
Revvity Omics, Revvity 5 4 16 0 0 0 25
Natera, Inc. 3 0 6 3 7 0 19
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 19 0 0 0 19
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 6 11 0 17
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 6 3 6 0 0 0 15
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 12 0 0 0 14
GenomeConnect, ClinGen 0 0 0 0 0 14 14
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 8 5 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 9 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 3 0 0 0 0 10
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 7 2 0 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 7 0 8
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 2 0 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 2 0 0 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 2 0 0 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 4 0 0 0 0 5
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 5 0 0 0 0 0 5
Division of Biology and Genetics, University of Brescia 5 0 0 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 3 0 4
Mendelics 2 1 0 1 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 1 0 4
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 2 0 0 0 0 4
New York Genome Center 0 0 4 0 0 0 4
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 2 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 1 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 0 2 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 1 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 1 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 2 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 1 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 1 1 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
Genetics Department, Hospital De La Santa Creu I Sant Pau 0 2 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
Shaine Morris Lab, Baylor College of Medicine 0 2 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Myelin Disorders Clinic, Children's Medical Center 0 1 0 0 0 0 1
Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1
Clinical Genetics, CHU Rennes 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Department of Pediatrics, University of Modena and Reggio Emilia 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Medical Genetics Laboratory, CHRU Nancy 0 1 0 0 0 0 1
Suma Genomics 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 0 1
Newman Lab, University of Manchester 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1

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