ClinVar Miner

Variants in gene POT1

Minimum submission review status: Collection method:
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Gene type:
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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
9 7 572 207 36 11 797

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Melanoma, cutaneous malignant, susceptibility to, 10 3 0 527 142 13 8 685
Hereditary cancer-predisposing syndrome 6 1 131 65 5 0 208
not provided 0 6 7 43 18 0 74
not specified 0 0 7 14 8 0 28
Glioma susceptibility 9 0 0 0 0 0 3 3
Breast carcinoma 0 0 0 1 0 0 1
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: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Invitae 1 0 527 160 13 0 701
Ambry Genetics 6 1 131 65 5 0 208
GeneDx 0 4 4 26 26 0 60
OMIM 0 0 0 0 0 11 11
Genetic Services Laboratory, University of Chicago 0 0 7 0 1 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 2 0 0 0 4
GeneReviews 3 0 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 0 0 1

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