ClinVar Miner

Variants in gene POT1

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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 risk factor total
6 6 362 165 36 11 551

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Melanoma, cutaneous malignant, susceptibility to, 10 0 0 290 79 13 8 386
Hereditary cancer-predisposing syndrome 6 1 131 65 5 0 208
not provided 0 5 6 42 18 0 71
not specified 0 0 7 14 7 0 28
Glioma susceptibility 9 0 0 0 0 0 3 3
Melanoma, cutaneous malignant, susceptibility to, 10; Glioma susceptibility 9 0 0 1 0 0 0 1
See cases 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Invitae 0 0 290 109 13 0 412
Ambry Genetics 6 1 131 65 5 0 208
GeneDx 0 3 4 26 26 0 59
OMIM 0 0 0 0 0 11 11
Genetic Services Laboratory, University of Chicago 0 0 7 1 0 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 2 0 0 0 4
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1

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