ClinVar Miner

Variants studied for arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome

Included ClinVar conditions (2):
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
12 1 1 0 0 14

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
PIEZO2 12 1 1 14

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic likely pathogenic uncertain significance total
University of Washington Center for Mendelian Genomics, University of Washington 11 0 0 11
OMIM 6 0 0 6
Fulgent Genetics,Fulgent Genetics 0 0 1 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 1 0 1

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