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
49 5 77 29 46 2 185

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SPINK5 21 2 74 29 44 1 149
ERCC2 8 2 1 0 0 1 11
MPLKIP 7 0 1 0 0 0 8
ST14 4 0 0 0 2 0 6
CLDN1 3 0 0 0 0 0 3
GTF2H5 2 1 0 0 0 0 3
ERCC3 1 0 1 0 0 0 2
GTF2E2 2 0 0 0 0 0 2
RNF113A 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 12 1 46 8 23 0 90
Illumina Clinical Services Laboratory,Illumina 1 0 24 19 21 0 65
OMIM 30 0 0 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
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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 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
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1

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