ClinVar Miner

Variants in gene RMRP

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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
202 146 533 28 18 807

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Anauxetic dysplasia 188 36 461 17 15 717
Metaphyseal chondrodysplasia, McKusick type 34 109 184 6 7 322
not specified 0 0 52 10 7 68
Anauxetic dysplasia 1; Metaphyseal chondrodysplasia, McKusick type; Metaphyseal dysplasia without hypotrichosis 5 17 28 1 0 51
not provided 11 10 11 8 10 47
RMRP-related disorder 1 3 7 11 2 24
Anauxetic dysplasia 1 5 1 1 0 0 7
Metaphyseal dysplasia without hypotrichosis 7 0 0 0 0 7
Metaphyseal chondrodysplasia, McKusick type; Metaphyseal dysplasia without hypotrichosis 1 1 1 0 0 3
Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 188 36 461 17 15 717
Natera, Inc. 4 25 122 5 7 163
Counsyl 2 60 63 1 0 126
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 15 53 51 4 3 126
Fulgent Genetics, Fulgent Genetics 5 17 25 1 0 48
GeneDx 5 5 2 9 5 26
PreventionGenetics, part of Exact Sciences 1 3 7 11 2 24
OMIM 23 0 0 0 0 23
CeGaT Center for Human Genetics Tuebingen 4 4 6 4 1 19
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 1 9 12
Laboratorio de Biologia Molecular/Medicina Genomica - IFF/Fiocruz, Instituto Fernandes Figueira, Fundacao Oswaldo Cruz 10 0 0 0 0 10
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 7 7
3billion 1 2 3 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 1 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 2 3
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 1 0 0 3
AiLife Diagnostics, AiLife Diagnostics 2 0 1 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Illumina Laboratory Services, Illumina 2 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 1 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
Blueprint Genetics 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 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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