ClinVar Miner

Variants studied for exanthem

Included ClinVar conditions (7):
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 association not provided total
6 6 580 364 92 2 1 1034

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
CARD14 4 3 359 230 50 1 1 638
CARD14, SGSH 0 0 159 97 32 0 0 283
CARD14, LOC126862662, SGSH 0 1 57 37 10 1 0 104
SYK 2 2 1 0 0 0 0 5
CARD14, CCDC40, EIF4A3, GAA 0 0 2 0 0 0 0 2
​intergenic 0 0 1 0 0 0 0 1
C1QTNF1, CANT1, CARD14, CBX2, CBX4, CBX8, CCDC40, EIF4A3, ENGASE, ENPP7, GAA, LGALS3BP, RBFOX3, RNF213, SGSH, SLC26A11, TBC1D16, TIMP2 0 0 1 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 association not provided total
Labcorp Genetics (formerly Invitae), Labcorp 3 3 567 360 85 0 0 1018
Genome-Nilou Lab 0 0 0 0 12 0 0 12
Fulgent Genetics, Fulgent Genetics 0 0 4 4 1 0 0 9
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 1 5 0 0 2 0 8
Aleixo Muise Laboratory, Hospital For Sick Children 2 2 1 0 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 1 0 0 0 4
OMIM 3 0 0 0 0 0 0 3
Mendelics 0 0 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
3billion 0 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1

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