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
53 8 216 84 107 1 443

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Netherton syndrome 37 7 198 59 55 1 340
not provided 24 2 18 20 49 0 112
not specified 0 0 0 12 31 0 43
Susceptibility to nonsyndromic otitis media 1 0 8 0 0 0 9
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: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 28 4 151 64 30 0 277
GeneDx 19 2 10 16 57 0 104
Illumina Clinical Services Laboratory,Illumina 2 0 49 8 45 0 104
PreventionGenetics, PreventionGenetics 0 0 0 0 26 0 26
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 1 0 18 0 20
CeGaT Praxis fuer Humangenetik Tuebingen 6 0 5 2 0 0 13
Santos-Cortez Lab,University of Colorado School of Medicine 1 0 8 0 0 0 9
OMIM 7 0 0 0 1 0 8
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 3 0 2 0 5
Baylor Genetics 1 0 3 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 1 0 2
Mendelics 2 0 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biomedical Innovation Departament, CIEMAT 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1

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