ClinVar Miner

Variants studied for Klippel-Feil syndrome

Included ClinVar conditions (10):
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
21 23 278 152 66 2 516

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GDF6 4 2 213 142 46 0 388
MYO18B 12 17 56 5 14 2 103
GDF3 1 1 7 5 6 0 17
MEOX1 3 2 0 0 0 0 4
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: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 164 136 30 0 330
Illumina Laboratory Services, Illumina 0 0 54 14 23 0 91
Revvity Omics, Revvity 1 6 30 2 0 0 39
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 3 3 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 1 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 2 1 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 2 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 3 0 0 0 4
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 2 1 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Institute for Genomic Medicine, Nationwide Children's Hospital 0 2 0 0 0 0 2
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
3billion 0 2 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 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
Weber Lab, Hannover Medical School 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
DASA 0 1 0 0 0 0 1
UAEU Genomics Laboratory, United Arab Emirates University 0 0 1 0 0 0 1

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