ClinVar Miner

Variants in gene SH3PXD2B

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
8 1 148 49 61 249

Condition and significance breakdown #

Total conditions: 4
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Frank-Ter Haar syndrome 6 1 131 23 50 210
not provided 2 0 23 28 18 61
not specified 0 0 0 1 7 8
Borrone Di Rocco Crovato syndrome 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 127 23 50 200
Invitae 0 0 0 25 17 42
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 19 0 4 23
OMIM 6 0 0 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 3 1 5
GeneDx 1 0 2 0 1 4
PreventionGenetics,PreventionGenetics 0 0 0 1 3 4
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 2
Neurogenetics Research; Murdoch Childrens Research Institute 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 1
Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.