ClinVar Miner

Variants studied for autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

Included ClinVar conditions (1):
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 total
7 10 177 75 18 285

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 total
BICD2 7 10 177 75 18 285

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 2 5 170 75 16 268
OMIM 6 0 0 0 0 6
Baylor Genetics 0 0 3 0 0 3
Mendelics 0 1 0 0 2 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 0 0 2
Institute of Human Genetics,Cologne University 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 1
School of Bio-Medicine,Mongolian National University of Medical Sciences 0 1 0 0 0 1

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