ClinVar Miner

Variants studied for Tumor predisposition syndrome 3

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 not provided total
137 45 962 610 28 5 1766

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
POT1 137 45 962 610 28 5 1766

Submitter and significance breakdown #

Total submitters: 14
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 125 39 958 609 28 0 1759
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 3 12 0 0 0 16
OMIM 14 0 0 0 0 0 14
GeneReviews 0 0 0 0 0 3 3
Center of Human Genetics, Hôpital Erasme 0 3 0 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Baylor Genetics 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 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.