ClinVar Miner

Variants studied for prenatal-onset spinal muscular atrophy with congenital bone fractures

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
21 11 5 1 3 37

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ASCC1 15 6 4 0 1 23
TRIP4 6 5 1 1 1 13
LOC126862156, TRIP4 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 7 0 0 0 0 7
Centogene AG - the Rare Disease Company 0 1 2 0 0 3
Mendelics 1 1 0 0 1 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 1 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 2 0 0 0 3
Baylor Genetics 1 0 1 0 0 2
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 2
Fulgent Genetics, Fulgent Genetics 1 0 0 1 0 2
Illumina Laboratory Services, Illumina 1 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 2 0 0 2
Laboratory of Functional Genomics, Research Centre for Medical Genetics 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 1 0 0 0 0 1
JKU Lab, Dept of Paediatrics, Johannes Kepler University 1 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 1

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