Variants studied for Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13

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	not provided	total
2	3	41	16	0	5	66

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	not provided	total
DYNC1H1	2	3	40	16	5	65
DYNC1H1, LOC126862060	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	not provided	total
Fulgent Genetics, Fulgent Genetics	1	1	18	14	0	34
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	14	1	0	15
New York Genome Center	0	1	3	0	0	4
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	3	3
GenomeConnect - Brain Gene Registry	0	0	0	0	2	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	0	0	1
Institute of Human Genetics, University of Goettingen	0	0	1	0	0	1
Mayo Clinic Laboratories, Mayo Clinic	0	0	1	0	0	1
Division of Human Genetics, Children's Hospital of Philadelphia	0	0	1	0	0	1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	0	1	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	1	0	0	0	0	1
Kariminejad - Najmabadi Pathology & Genetics Center	0	0	1	0	0	1
University of Washington Department of Laboratory Medicine, University of Washington	0	0	1	0	0	1
Suma Genomics	0	0	0	1	0	1

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