ClinVar Miner

Variants studied for obsolete MRX52

Included ClinVar conditions (5):
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
38 12 216 327 29 2 617

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ARX 27 10 169 266 21 1 489
ARX, LOC109610631 10 1 44 61 8 1 123
ARX, PCYT1B, PDK3, POLA1 1 0 2 0 0 0 3
ARX, LOC110120595, LOC110120597, POLA1 0 0 1 0 0 0 1
ARX, POLA1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 33 5 207 326 28 0 599
Fulgent Genetics, Fulgent Genetics 0 1 5 1 0 0 7
OMIM 4 0 1 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 0 0 0 0 3
Athena Diagnostics Inc 0 0 0 0 2 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 1 1 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Neurogenetics Research Program, University of Adelaide 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 1 1
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 0 1 0 0 0 1

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