ClinVar Miner

Variants studied for PCWH syndrome

Included ClinVar conditions (2):
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 total
15 7 29 6 12 67

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
POLR2F, SOX10 15 7 27 6 11 64
LOC129391280, POLR2F, SOX10 0 0 2 0 1 3

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 22 6 12 40
OMIM 6 0 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 1 3 1 0 5
Baylor Genetics 1 0 2 0 0 3
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 3 0 0 0 0 3
NIMGenetics, NIMGenetics 2 1 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 2
Molecular Genetics Laboratory; Baylor College of Medicine 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
3billion, Medical Genetics 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 1

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