ClinVar Miner

Variants studied for cartilage-hair hypoplasia

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
38 115 192 6 7 332

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
RMRP 37 114 192 6 7 331
CCDC107, RMRP 1 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Natera, Inc. 5 25 122 5 7 164
Counsyl 2 60 63 1 0 126
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 15 51 0 0 0 66
Fulgent Genetics, Fulgent Genetics 6 17 25 1 0 49
OMIM 19 0 0 0 0 19
Laboratorio de Biologia Molecular/Medicina Genomica - IFF/Fiocruz, Instituto Fernandes Figueira, Fundacao Oswaldo Cruz 10 0 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 0 0 0 4
3billion 1 1 2 0 0 4
Undiagnosed Diseases Network, NIH 1 0 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 2 0 0 2
Shenzhen Maternity and Child Healthcare Hospital, Institute of Maternal and Child Medicine Research 2 0 0 0 0 2
GeneReviews 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 1
Myriad Genetics, Inc. 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Department of Pediatrics, University of Modena and Reggio Emilia 1 0 0 0 0 1

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