ClinVar Miner

Variants studied for X-linked chondrodysplasia punctata

Included ClinVar conditions (3):
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
54 22 19 3 16 109

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 total
ARSL 14 3 16 3 15 47
EBP 27 15 3 0 0 44
NSDHL 12 4 0 0 1 17
ARSD, ARSL 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genetic Services Laboratory, University of Chicago 19 19 3 0 0 41
Invitae 4 1 11 2 14 32
OMIM 24 0 0 0 0 24
GeneReviews 11 0 0 0 0 11
Mendelics 2 0 1 0 1 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 2 3
Illumina Clinical Services Laboratory,Illumina 1 0 1 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 1

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