ClinVar Miner

Variants studied for vertebral column disorder

Included ClinVar conditions (13):
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
46 32 232 161 52 2 8 508

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
LFNG 5 2 68 101 11 0 1 187
MESP2 4 6 59 20 18 0 1 99
DLL3 8 3 47 16 9 0 0 76
TBX6 14 5 10 2 1 0 1 32
COL11A1 0 3 12 3 2 0 0 20
LOC130057891, MESP2 4 6 6 3 1 0 2 19
COL9A3 0 1 8 7 0 1 0 17
DLL3, LOC130064417 1 3 7 3 4 0 0 17
LFNG, LOC129997823 0 0 6 3 1 0 0 10
HES7 3 2 1 0 0 0 1 6
RIPPLY2, RIPPLY2-CYB5R4 2 0 1 0 2 0 2 5
COL9A3, LOC126863084 0 0 2 1 0 0 0 3
DLL3, LOC130064419 1 0 1 0 1 0 0 3
LFNG, MIR4648 0 0 0 2 1 0 0 3
COL9A2 0 0 2 0 0 0 0 2
DLL3, LOC130064417, PLEKHG2 1 0 0 0 1 0 0 2
DLL3, LOC130064418 1 1 0 0 0 0 0 2
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 0 0 0 0 0 0 1
BRAT1, LFNG 0 0 1 0 0 0 0 1
CILP 0 0 0 0 0 1 0 1
COL11A1, LOC126805814 0 0 1 0 0 0 0 1
HES7, LOC130060203 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2 0 73 106 13 0 0 194
Illumina Laboratory Services, Illumina 0 0 77 14 19 0 0 110
Natera, Inc. 2 0 16 17 14 0 0 49
Fulgent Genetics, Fulgent Genetics 0 5 20 15 2 0 0 42
Counsyl 0 12 19 2 1 0 0 34
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 8 13 11 0 0 32
OMIM 27 0 1 0 0 2 0 30
GeneReviews 4 0 0 0 3 0 8 15
Revvity Omics, Revvity 3 4 4 0 0 0 0 11
Genome-Nilou Lab 0 0 1 1 8 0 0 10
Baylor Genetics 5 0 3 0 0 0 0 8
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 7 0 0 0 0 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 1 0 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 4 0 0 0 0 4
3billion 2 0 2 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 0 3 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 2 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 1
Molecular Medicine, University of Pavia 1 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 1 0 0 0 0 0 1
Hunan Provincial Maternal and Child Health Care Hospital 0 1 0 0 0 0 0 1

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