ClinVar Miner

Variants studied for short-rib thoracic dysplasia 6 with or without polydactyly

Included ClinVar conditions (3):
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 total
64 54 340 241 46 677

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NEK1 49 33 330 240 44 647
EVC 4 4 0 0 0 4
LOC129993365, NEK1 0 0 3 1 0 4
DYNC2H1 2 3 1 0 0 3
TTC21B 2 3 0 0 0 3
CBR4, NEK1, PALLD, SH3RF1 1 0 1 0 0 2
LOC129993367, NEK1 0 0 0 0 2 2
TRAF3IP1 2 2 0 0 0 2
WDR35 0 2 2 0 0 2
DYNC2LI1 0 1 1 0 0 1
EVC2 1 1 0 0 0 1
EVC2, LOC126806961 1 1 0 0 0 1
FUZ 1 1 0 0 0 1
IFT172, LOC126806174 0 1 0 0 0 1
IFT74 0 1 1 0 0 1
IFT80, TRIM59-IFT80 1 1 0 0 0 1
LOC129993366, NEK1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 29 14 261 229 37 570
Illumina Laboratory Services, Illumina 0 0 77 11 20 108
University of Washington Center for Mendelian Genomics, University of Washington 0 31 0 0 0 31
Dan Cohn Lab, University Of California Los Angeles 23 3 5 0 0 31
Fulgent Genetics, Fulgent Genetics 1 1 5 1 0 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 8 8
OMIM 7 0 0 0 0 7
Revvity Omics, Revvity 2 0 4 0 0 6
Baylor Genetics 1 0 2 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Neuberg Centre For Genomic Medicine, NCGM 0 2 1 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 2
3billion, Medical Genetics 1 1 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 0 1 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
MedGen Diagnostic Laboratory, MedGen Medical Centre 1 0 0 0 0 1
Royal Medical Services, Bahrain Defence Force Hospital 0 0 1 0 0 1

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