ClinVar Miner

Variants studied for X-linked dominant disease

Included ClinVar conditions (1):
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
121 12 16 12 3 162

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PHEX 74 5 10 8 1 97
PHEX, PTCHD1 46 7 6 4 2 64
CBLL2, PHEX, PTCHD1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Institute of Human Genetics,Klinikum rechts der Isar 109 1 1 0 0 111
Illumina Clinical Services Laboratory,Illumina 0 0 13 12 3 28
OMIM 11 0 0 0 0 11
Integrated Genetics/Laboratory Corporation of America 0 7 0 0 0 7
Fulgent Genetics 3 0 0 0 0 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 1 0 0 2
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 2 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 0 0 1

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