ClinVar Miner

Variants studied for rhizomelic chondrodysplasia punctata type 1

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 not provided total
20 63 57 6 8 9 144

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PEX7 20 63 57 6 8 9 144

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 0 27 14 1 0 0 42
Illumina Laboratory Services, Illumina 0 0 31 4 3 0 38
Fulgent Genetics, Fulgent Genetics 9 13 7 1 0 0 30
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 13 5 0 0 0 0 18
Baylor Genetics 10 6 0 0 0 0 16
Natera, Inc. 3 1 10 2 0 0 16
Myriad Genetics, Inc. 2 13 0 0 0 0 15
GeneReviews 0 0 0 0 0 8 8
OMIM 6 0 0 0 0 0 6
Genetic Services Laboratory, University of Chicago 5 1 0 0 0 0 6
Genome-Nilou Lab 0 0 1 0 5 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1

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