Variants studied for scapuloperoneal spinal muscular atrophy, autosomal dominant

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
5	2	45	14	58	1	122

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	benign	not provided	total
TRPV4	5	2	42	13	58	1	118
MIR4497, TRPV4	0	0	3	1	0	0	4

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	36	12	58	0	106
Fulgent Genetics, Fulgent Genetics	1	0	8	2	0	0	11
OMIM	3	0	0	0	0	0	3
Baylor Genetics	0	0	1	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University	0	1	0	0	0	0	1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ	0	1	0	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	1	0	0	0	0	0	1

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