ClinVar Miner

Variants studied for Trichorhinophalangeal syndrome, type III; Trichorhinophalangeal dysplasia type I

Coded as:
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
79 7 136 154 31 405

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TRPS1 79 7 136 152 31 403
LOC110120802, TRPS1 0 0 0 2 0 2

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 78 7 136 152 31 404
Fulgent Genetics, Fulgent Genetics 0 0 0 2 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1

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