ClinVar Miner

Variants studied for autosomal ichthyosis syndrome with prominent hair abnormalities

Included ClinVar conditions (13):
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
79 12 220 59 57 1 410

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SPINK5 37 7 198 59 55 1 340
ERCC2 9 3 13 0 0 0 25
MPLKIP 9 0 2 0 0 0 11
ERCC3 4 0 3 0 0 0 7
GTF2H5 5 1 1 0 0 0 7
ST14 4 1 0 0 2 0 7
RNF113A 3 0 3 0 0 0 5
TARS1 3 0 0 0 0 0 3
CLDN1, CLDN16 2 0 0 0 0 0 2
GTF2E2 2 0 0 0 0 0 2
CLDN1 1 0 0 0 0 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 53 30 0 266
Illumina Clinical Services Laboratory,Illumina 2 0 49 8 45 0 104
OMIM 38 0 0 0 0 0 38
Baylor Genetics 8 1 21 0 0 0 30
Fulgent Genetics,Fulgent Genetics 3 0 2 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 3 0 0 0 5
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 3 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 2 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 1 0 0 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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 0 2 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Molecular Metabolic laboratory,Sheba Medical Center Tel-Hashomer 1 0 0 0 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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