ClinVar Miner

Variants in gene SPINK5

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
37 5 85 44 97 1 241

Condition and significance breakdown #

Total conditions: 5
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Netherton syndrome 21 2 74 29 44 1 149
not provided 19 2 14 5 49 0 89
not specified 0 0 0 12 31 0 43
Erythroderma; Increased IgE level 0 2 0 0 0 0 2
SPINK5 POLYMORPHISM 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 18
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 18 2 10 16 57 0 103
Invitae 12 1 46 8 23 0 90
Illumina Clinical Services Laboratory,Illumina 1 0 24 19 21 0 65
PreventionGenetics 0 0 0 0 26 0 26
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 1 0 18 0 20
OMIM 7 0 0 0 1 0 8
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 3 0 2 0 5
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 1 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 0 0 2
Blueprint Genetics, 1 0 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 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.