ClinVar Miner

Variants in gene ALS2

Minimum submission review status: Collection method:
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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 total
28 9 88 34 20 163

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Infantile-onset ascending hereditary spastic paralysis 14 1 31 14 10 70
ALS2-Related Disorders 2 0 34 12 5 53
Amyotrophic Lateral Sclerosis, Recessive 0 0 33 13 5 51
not provided 2 6 19 2 4 33
not specified 0 0 7 6 15 28
Amyotrophic lateral sclerosis type 2 5 0 1 0 0 6
Juvenile primary lateral sclerosis 4 0 0 0 0 4
Amyotrophic lateral sclerosis type 2; Juvenile primary lateral sclerosis; Infantile-onset ascending hereditary spastic paralysis 1 0 2 0 0 3
Hereditary spastic paraplegia 0 0 2 0 0 2
Inborn genetic diseases 2 0 0 0 0 2
Peripheral axonal neuropathy 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 4 1 31 14 10 60
Illumina Clinical Services Laboratory,Illumina 0 0 34 13 5 52
GeneReviews 17 0 0 0 0 17
OMIM 16 0 0 0 0 16
Athena Diagnostics Inc 0 0 9 2 5 16
PreventionGenetics 0 0 0 4 12 16
GeneDx 2 4 7 0 0 13
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 8 0 0 9
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 1 3 5
Fulgent Genetics 1 0 2 0 0 3
Ambry Genetics 2 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 0 0 2
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 0 0 2 0 0 2
Mendelics 1 0 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 1 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1

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