ClinVar Miner

Variants in gene TOE1

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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
8 14 4 5 8 34

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Pontocerebellar hypoplasia, type 7 6 13 2 0 0 17
not provided 3 0 2 5 8 17
Inborn genetic diseases 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 0 2 4 8 15
University of Washington Center for Mendelian Genomics, University of Washington 0 12 0 0 0 12
OMIM 6 0 0 0 0 6
Baylor Genetics 0 0 2 0 0 2
GeneDx 2 0 0 0 0 2
Ambry Genetics 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 1

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