ClinVar Miner

Variants in gene SPRED1

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
37 12 103 68 29 233

Condition and significance breakdown #

Total conditions: 5
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Legius syndrome 35 5 85 48 12 178
not provided 2 6 13 12 25 56
not specified 0 0 8 14 10 30
Inborn genetic diseases 1 1 0 0 0 2
Rasopathy 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 20
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 27 2 36 21 6 92
Illumina Clinical Services Laboratory,Illumina 0 0 47 27 0 74
GeneDx 1 3 15 18 20 57
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 4 7 7 19
Center for Human Genetics, Inc 6 3 1 0 0 10
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 10 10
OMIM 9 0 0 0 0 9
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 1 1 5 8
PreventionGenetics 0 0 0 2 4 6
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 3 1 0 4
GeneReviews 0 0 0 0 4 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 4 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 3 3
Ambry Genetics 1 1 0 0 0 2
Blueprint Genetics, 0 2 0 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 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.