Variants in gene PSENEN - ClinVar Miner

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
8	0	23	23	2	56

Condition and significance breakdown #

Total conditions: 4

Download table as spreadsheet

Condition	pathogenic	uncertain significance	likely benign	benign	total
not provided	1	17	22	2	42
Acne inversa, familial, 2	7	1	0	1	9
not specified	0	7	0	0	7
PSENEN-related disorder	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 11

Download table as spreadsheet

Submitter	pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	0	17	22	2	41
OMIM	7	0	0	0	7
Ambry Genetics	0	7	0	0	7
PreventionGenetics, part of Exact Sciences	0	0	1	0	1
CeGaT Center for Human Genetics Tuebingen	1	0	0	0	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	1	1
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	0	0	1	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	1	1
Genome-Nilou Lab	0	0	0	1	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	1
Breakthrough Genomics, Breakthrough Genomics	0	0	0	1	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.