ClinVar Miner

Variants studied for Spinal muscular atrophy

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
21 10 11 6 2 2 50

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SMN1 17 8 10 5 0 1 39
IGHMBP2 1 1 1 0 0 0 3
LOC130067862, SCO2, TYMP 0 0 0 0 2 0 2
​intergenic 1 0 0 0 0 0 1
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: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 9 1 9 6 0 0 25
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 5 0 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 1 0 0 0 6
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
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
Department of Medical Genetics, Capital Institute of Pediatrics 1 0 0 0 0 0 1

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