ClinVar Miner

Variants studied for autosomal ichthyosis syndrome with prominent neurologics signs

Included ClinVar conditions (12):
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
76 78 187 81 34 1 424

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ALDH3A2 30 59 69 11 14 1 168
PEX7 24 8 63 51 9 0 144
PHYH 3 4 33 10 7 0 53
PSAT1 5 0 13 9 4 0 31
PHGDH 8 3 8 0 0 0 17
ELOVL4 4 1 1 0 0 0 6
AP1S1 2 2 0 0 0 0 4
KRT14 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 1 2 122 17 24 0 166
Invitae 24 7 39 55 8 0 133
Counsyl 4 47 10 2 0 0 63
OMIM 27 0 0 0 0 0 27
Natera, Inc. 7 0 5 5 2 0 19
Baylor Genetics 6 2 8 0 0 0 16
Integrated Genetics/Laboratory Corporation of America 13 1 0 0 0 0 14
Myriad Women's Health, Inc. 1 8 0 0 0 0 9
Fulgent Genetics,Fulgent Genetics 3 0 3 1 0 0 7
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 2 5 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 2 3 0 0 0 6
Rizzo Lab,University of Nebraska Medical Center 5 0 0 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 3 0 4
Mendelics 1 0 0 0 2 0 3
Hadassah Hebrew University Medical Center 0 3 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 0 0 2
GeneReviews 2 0 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 1 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 2 0 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 0 0 2 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Sharon lab,Hadassah-Hebrew University Medical Center 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 0 1

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