ClinVar Miner

Variants studied for arthrogryposis

Included ClinVar conditions (11):
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
22 25 463 206 85 740

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 total
FBN2 14 16 351 156 85 562
MYH3 4 2 72 35 0 112
TNNT3 0 0 17 8 0 25
TPM2 0 0 9 5 0 14
TNNI2 0 0 10 2 0 12
ADGRG6 3 0 0 0 0 3
ATP1A2 0 2 0 0 0 2
ECEL1 0 0 2 0 0 2
RYR1 1 1 0 0 0 2
BICD2 0 1 0 0 0 1
FBN1 0 1 0 0 0 1
FZD3 0 1 0 0 0 1
KIF1B 0 0 1 0 0 1
SEPSECS 0 1 0 0 0 1
SH3TC2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 2 8 285 74 67 436
Illumina Clinical Services Laboratory,Illumina 0 0 179 138 16 332
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 5 19 24
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 4 13 17
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 12 5 17
OMIM 13 0 0 0 0 13
Fulgent Genetics,Fulgent Genetics 0 1 7 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 7 0 0 8
Center for Human Genetics, Inc 2 2 2 1 0 7
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 4 4
Harry Perkins Institute of Medical Research,University of Western Australia 3 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 2 0 0 3
Mendelics 0 2 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 2
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 2 0 0 0 2
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 2 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Blueprint Genetics 0 1 0 0 0 1
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 0 1 0 0 0 1
Dobyns Lab,Seattle Children's Research Institute 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 1
Medical Genetics Clinic,Mersin Women and Children Hospital 0 1 0 0 0 1

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