ClinVar Miner

Variants studied for Atrophia bulborum hereditaria

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
20 3 0 0 0 23

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic total
NDP 18 3 21
FZD4, PRSS23 1 0 1
TSPAN12 1 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic total
OMIM 16 0 16
DBGen Ocular Genomics 1 1 2
Mendelics 1 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 0 1
Erez Levanon lab,Bar Ilan University 1 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1
Sharon lab,Hadassah-Hebrew University Medical Center 0 1 1

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