ClinVar Miner

Variants studied for xeroderma pigmentosum group F

Included ClinVar conditions (5):
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
33 8 406 227 49 1 693

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ERCC4 28 8 369 211 48 1 635
ERCC4, LOC130058543 4 0 36 16 1 0 56
ERCC4, LOC130058543, LOC130058544 1 0 0 0 0 0 1
ERCC4, MIR193B, MIR365A, MRTFB, PARN 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 30 3 307 202 26 0 568
Illumina Laboratory Services, Illumina 1 0 102 25 32 0 160
Fulgent Genetics, Fulgent Genetics 1 0 17 4 0 0 22
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 5 13 0 18
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 13 0 0 0 14
Mendelics 0 0 2 5 0 0 7
OMIM 5 0 0 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 1 0 0 3
MGZ Medical Genetics Center 0 2 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 0 2 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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