ClinVar Miner

Variants studied for inherited focal segmental glomerulosclerosis

Included ClinVar conditions (11):
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
80 72 845 853 275 3 2002

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
INF2 22 19 495 670 147 1 1256
PAX2 28 24 143 100 18 0 306
TRPC6 10 13 92 14 36 0 157
ACTN4 5 7 29 27 40 0 98
MYO1E 5 2 35 25 6 1 73
ANLN 2 0 19 6 24 1 51
CRB2 6 6 20 6 1 0 38
INF2, LOC130056630 0 0 3 3 1 0 7
INF2, LOC130056627 0 0 2 0 1 0 3
LOC110120845, PAX2 0 1 1 0 0 0 2
LOC112272600, MYO1E 0 0 1 1 0 0 2
ACTN4, LOC130064361 0 0 0 0 1 0 1
ADSS1, AHNAK2, AKT1, BRF1, BTBD6, CDCA4, CEP170B, CLBA1, GPR132, INF2, JAG2, NUDT14, PACS2, PLD4, SIVA1, ZBTB42 0 0 1 0 0 0 1
ADSS1, INF2 0 0 1 0 0 0 1
ARHGAP24 0 0 1 0 0 0 1
HIF1AN, NDUFB8, PAX2 1 0 0 0 0 0 1
LDHAL6B, MYO1E 0 0 0 1 0 0 1
LMX1B 1 0 0 0 0 0 1
NUP107 0 0 1 0 0 0 1
SYNPO 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 39 12 546 743 131 0 1471
Fulgent Genetics, Fulgent Genetics 17 9 142 159 16 0 343
Illumina Laboratory Services, Illumina 0 0 93 17 105 0 215
Genome-Nilou Lab 0 0 0 1 73 0 74
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 9 5 35 0 0 0 49
MVZ Medizinische Genetik Mainz 0 8 22 0 0 0 30
OMIM 26 0 0 0 0 0 26
Precision Medicine Center, Zhengzhou University 5 8 5 0 0 0 18
Baylor Genetics 2 1 14 0 0 0 17
3billion 3 6 4 0 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 7 1 0 0 12
Athena Diagnostics 0 0 0 0 9 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 7 0 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 0 3 6 0 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 1 0 6 0 0 0 7
Molecular Biology Laboratory, Fundació Puigvert 3 4 0 0 0 0 7
Revvity Omics, Revvity 0 0 5 0 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 3 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 1 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 3 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 2 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 2 0 1 0 0 0 3
Institute of Human Genetics, Cologne University 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 2 0 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 0 2
Genomics England Pilot Project, Genomics England 1 1 0 0 0 0 2
Eurofins-Biomnis 0 2 0 0 0 0 2
Dr.Nikuei Genetic Center 0 0 0 2 0 0 2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
University of Iowa Renal Genetics Clinic, University of Iowa 0 1 0 0 0 0 1
Indian Institute of Integrative Medicine, Council of Scientific and Industrial Research 0 0 1 0 0 0 1
Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
DASA 1 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 0 1 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 1 0 0 0 0 0 1

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