Variants studied for Spinal muscular atrophy with congenital bone fractures 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
15	6	4	0	1	23

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
ASCC1	15	6	4	1	23

Submitter and significance breakdown #

Total submitters: 19

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
OMIM	5	0	0	0	5
Baylor Genetics	1	0	1	0	2
Centogene AG - the Rare Disease Company	0	1	1	0	2
Mendelics	1	0	0	1	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	1	0	0	2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	2	0	0	0	2
Illumina Laboratory Services, Illumina	1	1	0	0	2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	2	0	0	0	2
Juno Genomics, Hangzhou Juno Genomics, Inc	0	0	2	0	2
Laboratory of Functional Genomics, Research Centre for Medical Genetics	2	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	1	1	0	0	2
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire	2	0	0	0	2
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM	1	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	1	0	0	1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	1	0	0	1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi	1	0	0	0	1
JKU Lab, Dept of Paediatrics, Johannes Kepler University	1	0	0	0	1
Payam Genetics Center, General Welfare Department of North Khorasan Province	1	0	0	0	1

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