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
64 9 941 280 191 1 1486

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
PLEC 13 5 704 229 153 1 1105
DST 10 2 235 51 38 0 336
KRT5 19 1 0 0 0 0 20
KRT14 16 0 1 0 0 0 17
KLHL24 4 0 0 0 0 0 4
ITGB4 1 1 0 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
EXPH5 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 10 6 933 280 191 0 1420
OMIM 53 0 0 0 0 0 53
Fulgent Genetics,Fulgent Genetics 1 0 13 0 0 0 14
GeneReviews 8 0 0 0 0 0 8
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
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1

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