ClinVar Miner

Variants studied for autosomal recessive congenital ichthyosis

Included ClinVar conditions (29):
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
460 168 806 194 220 6 1743

Gene and significance breakdown #

Total genes and gene combinations: 26
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SPINK5 37 7 198 59 55 1 340
TGM1 62 47 128 23 22 0 243
ALOX12B 122 10 69 4 8 0 204
ALDH3A2 30 59 69 11 14 1 168
PEX7 24 8 63 51 9 0 144
ALOXE3 42 3 57 4 16 2 120
CYP4F22 45 4 52 6 12 0 115
NIPAL4 28 0 54 8 14 0 103
PNPLA1 18 9 42 7 17 2 93
KRT2 8 0 22 9 40 0 79
PHYH 3 4 33 10 7 0 53
ABCA12 11 5 4 0 1 0 19
ABCA12, SNHG31 4 5 4 1 2 0 15
ST14 4 1 0 0 2 0 7
SULT2B1 4 2 0 0 1 0 7
LOC107882126, TGM1 0 1 5 0 0 0 6
CERS3 3 1 1 0 0 0 5
SDR9C7 5 0 0 0 0 0 5
CSTA 4 0 0 0 0 0 4
CASP14 1 0 2 0 0 0 3
NIPAL4, NIPAL4-DT 0 0 2 1 0 0 3
SERPINB8 3 1 0 0 0 0 3
ALOXE3, GUCY2D 1 0 0 0 0 0 1
KRT14 0 1 0 0 0 0 1
LIPN 1 0 0 0 0 0 1
TGM1, TINF2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 7 4 511 74 184 0 780
Invitae 50 11 179 99 34 0 373
Institute for Human Genetics,University Clinic Freiburg 223 0 0 0 0 0 223
OMIM 139 0 1 0 0 0 140
Counsyl 18 84 34 2 0 0 138
Natera, Inc. 18 1 58 18 20 0 115
Uitto Lab,Thomas Jefferson University 16 23 10 0 0 0 49
Baylor Genetics 10 0 18 0 0 0 28
Yale Center for Mendelian Genomics,Yale University 14 0 0 0 0 2 16
Integrated Genetics/Laboratory Corporation of America 14 1 0 0 0 0 15
Fulgent Genetics,Fulgent Genetics 6 3 2 1 0 0 12
Myriad Women's Health, Inc. 3 8 0 0 0 0 11
Mendelics 4 0 1 1 3 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 2 6 0 0 0 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 3 1 0 1 0 9
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 2 7 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 5 0 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 4 2 1 0 0 0 7
Department of Genetics,Sultan Qaboos University Hospital, Oman 3 1 3 0 0 0 7
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 3 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 5 0 0 0 0 5
Unité de Différenciation Epithéliale et Auto-Immunité Rhumatoïde,INSERM - Université Paul Sabatier 0 5 0 0 0 0 5
Rizzo Lab,University of Nebraska Medical Center 5 0 0 0 0 0 5
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 3 0 0 0 5
University of Washington Center for Mendelian Genomics, University of Washington 0 4 0 0 0 0 4
Hadassah Hebrew University Medical Center 0 4 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 1 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 1 0 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 3 0 0 0 0 0 3
Department of Molecular and Human Genetics, Baylor College of Medicine 3 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 1 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 0 0 3
Broad Institute Rare Disease Group, Broad Institute 2 0 0 0 1 0 3
GeneReviews 2 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 0 1 0 2
Breda Genetics srl 1 0 1 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 1 1 0 0 0 0 2
Medical Genetics Laboratory, West China Hospital, Sichuan University 2 0 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
Faculty of Health Sciences-Genetics Diagnosis Lab,Islamic University of Gaza 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 0 1 0 0 0 0 1
Biomedical Innovation Departament, CIEMAT 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Medical Genetics,Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 0 1
Laboratorio de Medicina Genomica,Instituto Nacional de Rehabilitacion Luis Guillermo Ibarra Ibarra 1 0 0 0 0 0 1
Nilou-Genome Lab 0 0 0 0 1 0 1

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