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
19 8 3 1 3 31

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 3 2 0 1 19
TRIP4 4 5 1 1 1 11
LOC126862156, TRIP4 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 23
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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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 1 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
Illumina Laboratory Services, Illumina 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 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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