ClinVar Miner

Variants studied for Pierre Robin syndrome associated with collagen disease

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
55 14 19 1 0 2 91

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
COL2A1 41 9 4 1 0 55
COL11A2 6 1 5 0 1 13
COL11A1 5 3 2 0 0 10
COL9A2 1 1 5 0 1 8
COL9A1 2 0 3 0 0 5

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
OMIM 32 0 0 0 0 32
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 12 4 0 0 0 16
Fulgent Genetics 3 0 9 0 0 12
Center for Human Genetics, Inc 4 4 2 0 0 10
GeneReviews 4 0 0 0 0 4
Molecular Diagnostics Laboratory,M Health: University of Minnesota 2 2 0 0 0 4
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 3 0 0 3
Baylor Miraca Genetics Laboratories, 1 1 0 0 0 2
Center for Medical Genetics Ghent,University of Ghent 2 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 2
GenomeConnect, ClinGen 0 0 0 0 2 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 1
Institute for Ophthalmic Research,University Tuebingen 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 0 0 1 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 1

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