ClinVar Miner

Variants in gene SPINK5

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Minimum submission review status: Collection method:
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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
84 24 410 319 227 19 1016

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ichthyosis linearis circumflexa 56 15 211 247 61 0 590
not provided 33 2 30 57 195 17 314
Netherton syndrome 26 7 172 17 57 2 273
not specified 0 0 1 12 64 0 77
Inborn genetic diseases 0 0 29 4 0 0 33
SPINK5-related condition 0 0 0 13 4 0 17
Susceptibility to nonsyndromic otitis media 1 0 8 0 0 0 9
Erythroderma; Increased circulating IgE level 0 2 0 0 0 0 2
Otitis media, susceptibility to 0 1 0 0 0 0 1
SPINK5 POLYMORPHISM 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 62 15 325 257 61 0 720
GeneDx 27 1 20 46 202 0 296
Illumina Laboratory Services, Illumina 2 0 49 8 45 0 104
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 49 0 49
PreventionGenetics, part of Exact Sciences 0 0 0 13 30 0 43
Ambry Genetics 0 0 29 4 0 0 33
CeGaT Center for Human Genetics Tuebingen 7 0 6 13 2 0 28
Genome-Nilou Lab 0 0 0 0 27 0 27
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 1 0 18 0 20
GenomeConnect, ClinGen 0 0 0 0 0 18 18
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 2 10 0 0 12
Santos-Cortez Lab, University of Colorado School of Medicine 1 0 8 0 0 0 9
OMIM 7 0 0 0 1 0 8
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 3 4 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 4 1 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 5 1 0 6
Eurofins Ntd Llc (ga) 0 0 3 0 2 0 5
Fulgent Genetics, Fulgent Genetics 1 0 2 2 0 0 5
Baylor Genetics 1 0 3 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 0 0 0 0 4
3billion 4 0 0 0 0 0 4
Revvity Omics, Revvity 1 1 1 0 0 0 3
New York Genome Center 0 1 2 0 0 0 3
Mendelics 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
Narges Medical Genetic and Prenatal Diagnosis Lab 0 2 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
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
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Biomedical Innovation Departament, CIEMAT 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1

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