ClinVar Miner

Variants studied for basal epidermolysis bullosa simplex

Included ClinVar conditions (18):
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
100 14 2391 927 255 1 3686

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PLEC 18 4 1429 657 178 1 2287
DST 39 7 957 268 77 0 1346
KRT5 19 1 1 1 0 0 22
KRT14 16 0 1 0 0 0 17
KLHL24 5 0 0 0 0 0 5
ITGB4 2 0 0 1 0 0 3
EXPH5 1 0 1 0 0 0 2
GALK1, ITGB4 0 1 1 0 0 0 2
ADCK5, BOP1, CPSF1, CYC1, CYHR1, DGAT1, EXOSC4, FBXL6, FOXH1, GPAA1, GRINA, HGH1, HSF1, KIFC2, MAF1, MIR1234, MIR661, MROH1, OPLAH, PARP10, PLEC, SCRT1, SCX, SHARPIN, SLC39A4, SLC52A2, SPATC1, TMEM249, TONSL, VPS28 0 0 1 0 0 0 1
LOC121331314, PLEC 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 45 10 2379 925 255 0 3614
OMIM 53 0 0 0 0 0 53
Fulgent Genetics,Fulgent Genetics 1 0 13 0 0 0 14
Baylor Genetics 2 0 8 0 0 0 10
GeneReviews 8 0 0 0 0 0 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 3 0 0 0 5
Mendelics 1 0 0 1 1 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Clinical Genetics Laboratory of Dermatology,Peking University First Hospital 3 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 1 0 0 3
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
Lab of Molecular Dermatology,University Medical Center Freiburg 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Precision Medicine Center,Zhengzhou University 1 0 0 0 0 0 1

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