ClinVar Miner

Variants in gene POT1

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 risk factor total
0 4 177 75 18 11 267

Condition and significance breakdown #

Total conditions: 7
Download table as spreadsheet
Condition likely pathogenic uncertain significance likely benign benign risk factor total
Melanoma, cutaneous malignant, susceptibility to, 10 0 154 58 13 8 231
Hereditary cancer-predisposing syndrome 0 26 15 5 0 46
not specified 0 7 14 7 0 28
not provided 4 4 0 0 0 8
Glioma susceptibility 9 0 0 0 0 3 3
Melanoma, cutaneous malignant, susceptibility to, 10; Glioma susceptibility 9 0 1 0 0 0 1
See cases 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 7
Download table as spreadsheet
Submitter likely pathogenic uncertain significance likely benign benign risk factor total
Invitae 0 154 58 13 0 225
Ambry Genetics 0 26 15 5 0 46
GeneDx 3 4 14 8 0 29
OMIM 0 0 0 0 11 11
Genetic Services Laboratory, University of Chicago 0 7 1 0 0 8
Fulgent Genetics 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.