ClinVar Miner

Variants studied for arthrogryposis

Included ClinVar conditions (15):
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
44 67 727 250 223 2 1263

Gene and significance breakdown #

Total genes and gene combinations: 58
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FBN2 20 22 615 221 121 2 954
MYH3 6 3 51 18 100 0 175
TNNT3 0 0 15 5 0 0 20
RYR1 5 8 0 0 0 0 13
SLC35A3 0 0 9 2 2 0 13
TNNI2 0 0 10 2 0 0 12
KIAA1109 0 4 0 0 0 0 4
ADGRG6 3 0 0 0 0 0 3
NALCN 0 3 0 0 0 0 3
PIEZO2 2 1 0 0 0 0 3
TPM2 0 0 1 2 0 0 3
ASAH1 0 2 0 0 0 0 2
ASPM 1 1 0 0 0 0 2
ATP1A2 0 2 0 0 0 0 2
CNTNAP1 1 1 0 0 0 0 2
DYNC1H1 0 0 2 0 0 0 2
EARS2 0 2 0 0 0 0 2
ECEL1 0 0 2 0 0 0 2
GLDN 0 1 1 0 0 0 2
LGI4 0 2 0 0 0 0 2
RAPSN 1 1 0 0 0 0 2
ROR2 0 2 0 0 0 0 2
SPAG16 0 0 2 0 0 0 2
VPS13D 0 0 2 0 0 0 2
ACTA1 1 0 0 0 0 0 1
ADSS1 1 0 0 0 0 0 1
ALDH5A1 0 1 0 0 0 0 1
ASCC1 1 0 0 0 0 0 1
ATP2B3 0 1 0 0 0 0 1
AVEN, RYR3 0 0 1 0 0 0 1
BICD2 0 1 0 0 0 0 1
CHRND 0 1 0 0 0 0 1
CHRNG 0 1 0 0 0 0 1
DQX1 0 0 1 0 0 0 1
FBLN1 0 0 1 0 0 0 1
FBN1 0 1 0 0 0 0 1
FZD3 0 1 0 0 0 0 1
GBE1 0 1 0 0 0 0 1
GCN1 0 0 1 0 0 0 1
GFRA4 0 0 1 0 0 0 1
IQSEC3 0 0 1 0 0 0 1
IQSEC3, LOC574538 0 0 1 0 0 0 1
KIF1B 0 0 1 0 0 0 1
MAGI3 0 0 1 0 0 0 1
MYOD1 1 0 0 0 0 0 1
NAGA 0 0 1 0 0 0 1
PRG4 0 0 1 0 0 0 1
PRICKLE1 0 0 1 0 0 0 1
SCN4A 0 1 0 0 0 0 1
SCN5A 0 1 0 0 0 0 1
SCN8A 0 1 0 0 0 0 1
SEPSECS 0 1 0 0 0 0 1
SETBP1 1 0 0 0 0 0 1
SH3TC2 0 0 1 0 0 0 1
TMPO 0 0 1 0 0 0 1
UNC50 0 0 1 0 0 0 1
ZEB2 0 0 1 0 0 0 1
ZNF875 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 6 14 494 185 72 0 771
Illumina Clinical Services Laboratory,Illumina 1 0 198 71 196 0 465
Cirak Lab,University Hospital Cologne 13 33 22 0 0 0 68
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 5 19 0 24
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 4 13 0 17
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 12 5 0 17
OMIM 13 0 0 0 0 0 13
Natera, Inc. 0 0 9 2 2 0 13
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 10 0 0 0 11
Mendelics 0 2 0 3 5 0 10
Fulgent Genetics,Fulgent Genetics 0 1 7 0 0 0 8
Baylor Genetics 2 0 5 0 0 0 7
Center for Human Genetics, Inc,Center for Human Genetics, Inc 2 2 2 1 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
Harry Perkins Institute of Medical Research,University of Western Australia 3 0 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 2 0 0 0 3
GeneReviews 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 1 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 0 2
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 2 0 0 0 2
SIB Swiss Institute of Bioinformatics 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 2 0 0 0 2
Center for Reproductive Medicine, Peking University Third Hospital 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 0 1 0 0 0 0 1
Dobyns Lab,Seattle Children's Research Institute 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Kasturba Medical College, Manipal University 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 0 1
Medical Genetics Clinic,Mersin Women and Children Hospital 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 1 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 1

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