Variants studied for spinal muscular atrophy-progressive myoclonic epilepsy syndrome

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
13	7	14	2	21	2	52

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	not provided	total
ASAH1	11	6	14	2	21	2	50
ASAH1, LOC129999939, LOC129999940	1	0	0	0	0	0	1
ASAH1, LOC129999940	1	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Genome-Nilou Lab	0	0	0	0	21	0	21
Fulgent Genetics, Fulgent Genetics	0	3	9	2	1	0	15
Medical Affairs, Dicerna Pharmaceuticals	9	1	0	0	0	0	10
OMIM	4	0	0	0	0	0	4
Baylor Genetics	0	0	3	0	0	0	3
Care4Rare-SOLVE, CHEO	0	0	2	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	1	0	1	0	0	0	2
MGZ Medical Genetics Center	0	1	0	0	0	0	1
GeneReviews	0	0	0	0	0	1	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	1	0	0	0	0	1
Dr. Faghihi's Medical Genetic Center	0	1	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocio	1	0	0	0	0	0	1

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