ClinVar Miner

Variants studied for autosomal recessive distal spinal muscular atrophy 1

Included ClinVar conditions (2):
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
49 30 345 125 52 551

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
IGHMBP2 49 30 345 125 52 551

Submitter and significance breakdown #

Total submitters: 26
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 39 12 265 110 35 461
Illumina Clinical Services Laboratory,Illumina 1 0 86 18 31 136
OMIM 9 0 0 0 0 9
Athena Diagnostics Inc 0 0 0 0 8 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 8 8
Service de Pédiatrie - Neurologie et infectiologie - Toulouse,CHU de Toulouse - Hôpital des Enfants 0 3 3 0 0 6
Fulgent Genetics,Fulgent Genetics 1 1 3 0 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 3 1 0 0 0 4
Baylor Genetics 2 0 1 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 1 0 1 1 3
Department of Medical Genetics, Oslo University Hospital 0 3 0 0 0 3
Mendelics 1 1 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 0 0 0 0 2
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 2
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 1 0 1 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Children's Hospital of Soochow University,Soochow University 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 1 0 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.