ClinVar Miner

Variants studied for constitutional hemolytic anemia due to membrane defect

Included ClinVar conditions (32):
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
197 51 670 152 183 3 1142

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ANK1 21 3 169 37 52 0 274
SPTA1 28 4 191 66 46 0 265
MTTP 14 24 77 23 38 0 162
SLC4A1 25 5 80 17 29 1 149
EPB42 10 0 46 3 7 0 60
APOB 21 0 26 1 0 0 48
SPTB 18 9 12 0 0 0 37
PCSK9 0 0 29 3 0 0 32
OR10Z1, SPTA1 0 0 16 2 3 0 19
EPB41 6 1 4 0 6 1 17
PIEZO1 8 2 5 0 1 0 15
RHAG 13 0 1 0 1 1 15
SLC2A1 9 2 5 0 0 0 15
LOC100289580, PIEZO1 2 1 5 0 0 0 8
XK 8 0 0 0 0 0 8
CD59 3 0 2 0 0 0 5
KCNN4 4 0 0 0 0 0 4
ABCB6 3 0 0 0 0 0 3
WDR72 3 0 0 0 0 0 3
APOB, APOB3'MAR 0 0 2 0 0 0 2
​intergenic 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 572 136 148 0 788
OMIM 130 0 0 0 0 0 130
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 12 0 39 1 45 0 97
Natera, Inc. 1 2 17 7 8 0 35
Baylor Genetics 9 1 23 0 0 0 33
Department of Genetic, Henri Mondor Hospital,Assistance Publique des Hôpitaux de Paris 12 9 0 0 0 0 21
Myriad Women's Health, Inc. 0 17 0 0 0 0 17
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 4 8 0 13
GeneReviews 11 0 0 0 0 0 11
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 9 0 10
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 5 0 1 0 9
Mendelics 1 0 1 1 4 0 7
Fulgent Genetics,Fulgent Genetics 3 1 2 0 0 0 6
Broad Institute Rare Disease Group, Broad Institute 0 1 2 1 2 0 6
Integrated Genetics/Laboratory Corporation of America 3 2 0 0 0 0 5
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 5 0 0 0 0 0 5
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 4 0 0 5
MVZ Dr. Eberhard & Partner Dortmund 3 1 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 0 3 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
Counsyl 1 1 0 1 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 1 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Division of Molecular Medicine,Faculty of Medicine Siriraj Hospital, Mahidol University 3 0 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 1 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 2 0 0 0 2
Bioinformatics dept.,Datar Cancer Genetics Limited, India 0 2 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 0 0 0 0 0 2
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 2 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Department of Hematology - Research Laboratory 1,Postgraduate Institute of Medical Education and Research 1 0 1 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Molecular Genetic Center,Genetaq 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 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
Sankaran Lab,Boston Children's Hospital 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 0 0 0 0 1
Department of Hematology,303rd Hospital of the People's Liberation Army 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1
Coyote Medical Laboratory (Beijing),Coyote 0 0 1 0 0 0 1
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 1 0 0 0 0 1
Unidade de Eritropatologia e Metabolismo do Ferro,Centro Hospitalar e Universitário de Coimbra 1 0 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1
UOS Fisiopatologia delle Anemie,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano 1 0 0 0 0 0 1

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