Variants studied for Spinal muscular atrophy

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
17	10	10	6	2	2	46

Gene and significance breakdown #

Total genes and gene combinations: 8

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
SMN1	14	8	9	5	0	1	36
IGHMBP2	1	1	1	0	0	0	3
LOC130067862, SCO2, TYMP	0	0	0	0	2	0	2
BICD2	0	0	0	0	0	1	1
DYNC1H1	1	0	0	0	0	0	1
SMN1, SMN2	0	0	0	1	0	0	1
SMN2	0	1	0	0	0	0	1
VRK1	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	8	1	9	6	0	0	24
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	6	0	0	0	0	7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	3	1	0	0	0	0	4
Natera, Inc.	0	0	0	0	2	0	2
Illumina Laboratory Services, Illumina	1	0	1	0	0	0	2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	1	1	0	0	0	0	2
Molecular Neurogenomics lab, VIB Department of Molecular Genetics; University of Antwerp	1	0	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Reproductive Health Research and Development, BGI Genomics	1	0	0	0	0	0	1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University	1	0	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
DASA	0	1	0	0	0	0	1

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