ClinVar Miner

Variants studied for autosomal recessive spondylocostal dysostosis

Included ClinVar conditions (5):
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
31 21 195 147 48 8 426

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LFNG 5 1 68 101 11 1 186
MESP2 4 6 58 19 17 1 96
DLL3 8 3 46 16 9 0 75
LOC130057891, MESP2 4 6 6 3 1 2 19
DLL3, LOC130064417 1 3 7 3 4 0 17
LFNG, LOC129997823 0 0 6 3 1 0 10
HES7 3 1 1 0 0 1 5
RIPPLY2, RIPPLY2-CYB5R4 2 0 1 0 2 2 5
DLL3, LOC130064419 1 0 1 0 1 0 3
LFNG, MIR4648 0 0 0 2 1 0 3
DLL3, LOC130064417, PLEKHG2 1 0 0 0 1 0 2
DLL3, LOC130064418 1 1 0 0 0 0 2
BRAT1, LFNG 0 0 1 0 0 0 1
HES7, LOC130060203 1 0 0 0 0 0 1
TBX6 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 2 0 73 106 13 0 194
Illumina Laboratory Services, Illumina 0 0 75 13 17 0 105
Natera, Inc. 2 0 16 17 14 0 49
Counsyl 0 12 19 2 1 0 34
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 8 13 11 0 32
OMIM 21 0 0 0 0 0 21
GeneReviews 4 0 0 0 3 8 15
Genome-Nilou Lab 0 0 1 1 7 0 9
Revvity Omics, Revvity 2 2 4 0 0 0 8
Baylor Genetics 5 0 1 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 1 1 2 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 2
3billion 1 0 1 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 0 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 0 1 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 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1

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