ClinVar Miner

Variants studied for Klippel-Feil syndrome

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
22 30 367 178 73 7 647

Gene and significance breakdown #

Total genes and gene combinations: 8
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GDF6 4 2 246 165 53 0 450
MYO18B 13 22 107 6 14 7 163
GDF3 1 1 12 7 6 0 24
MEOX1 3 4 0 0 0 0 6
A2ML1, ACSM4, AICDA, APOBEC1, ATN1, C12orf57, C1R, C1RL, C1S, C3AR1, CD163, CD163L1, CDCA3, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLSTN3, DPPA3, EMG1, ENO2, FAM90A1, FOXJ2, GDF3, GNB3, LPCAT3, LRRC23, MFAP5, MIR141, MIR200C, NANOG, NANOGNB, NECAP1, P3H3, PEX5, PHB2, PTPN6, RBP5, RIMKLB, SLC2A14, SLC2A3, SPSB2, TPI1, USP5, ZNF705A 0 0 1 0 0 0 1
CFAP418, GDF6, MTERF3, NDUFAF6, PLEKHF2, PTDSS1, UQCRB 0 0 1 0 0 0 1
LRRK2 1 0 0 0 0 0 1
RIPPLY2, RIPPLY2-CYB5R4 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 206 165 37 0 408
Revvity Omics, Revvity 1 6 75 3 0 0 85
Illumina Laboratory Services, Illumina 0 0 46 10 23 0 79
Department of Pathology and Laboratory Medicine, Sinai Health System 0 3 12 0 0 0 15
Genome-Nilou Lab 0 0 0 0 14 0 14
OMIM 13 0 0 0 0 0 13
Baylor Genetics 1 3 7 0 0 0 11
Fulgent Genetics, Fulgent Genetics 0 0 6 4 0 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 5 0 0 0 8
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 6 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 1 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 2 1 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 3 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 2 0 0 0 4
3billion 1 2 0 0 0 0 3
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 2 1 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 2 1 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 0 2
Codex Genetics Limited 2 0 0 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 2 0 0 0 0 2
Institute for Genomic Medicine, Nationwide Children's Hospital 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
CHU Sainte-Justine Research Center, University of Montreal 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Dasa 0 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
UAEU Genomics Laboratory, United Arab Emirates University 0 0 1 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Weber Lab, Hannover Medical School 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.