ClinVar Miner

Variants studied for autosomal recessive complex spastic paraplegia type 9B

Included ClinVar conditions (4):
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
4 3 9 1 8 3 28

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ALDH18A1 4 3 9 1 8 3 28

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 7 0 7
Fulgent Genetics, Fulgent Genetics 0 0 2 1 1 0 4
OMIM 3 0 0 0 0 0 3
Baylor Genetics 0 1 2 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 2 2
3billion 0 2 0 0 0 0 2
Breda Genetics srl 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 0 1 0 0 0 1

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