ClinVar Miner

Variants in gene CD151

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
3 6 108 76 31 209

Condition and significance breakdown #

Total conditions: 6
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 0 0 78 72 31 174
Epidermolysis bullosa simplex 7, with nephropathy and deafness; RAPH BLOOD GROUP SYSTEM 0 4 39 7 0 50
Inborn genetic diseases 0 0 18 1 0 19
CD151-related disorder 0 0 0 8 2 10
Epidermolysis bullosa simplex 7, with nephropathy and deafness 3 2 2 0 0 7
not specified 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 19
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 72 62 11 145
Fulgent Genetics, Fulgent Genetics 0 4 39 7 0 50
GeneDx 0 0 2 8 23 33
Breakthrough Genomics, Breakthrough Genomics 0 0 3 3 18 24
Ambry Genetics 0 0 18 1 0 19
PreventionGenetics, part of Exact Sciences 0 0 0 8 2 10
CeGaT Center for Human Genetics Tuebingen 0 0 3 3 0 6
Baylor Genetics 1 0 1 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 2
OMIM 1 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.