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
14	3	2	0	1	18

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	14	3	2	1	18

Submitter and significance breakdown #

Total submitters: 15

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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
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
Laboratory of Functional Genomics, Research Centre for Medical Genetics	2	0	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre	1	0	0	0	1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM	1	0	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	1	0	0	1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences	1	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	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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