ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.2014G>C (p.Glu672Gln) (rs45532440)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 16
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000121756 SCV000604594 benign not specified 2016-08-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000127292 SCV000212665 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre RCV000114504 SCV000268006 likely benign Familial cancer of breast 2015-06-01 criteria provided, single submitter case-control
Color RCV000127292 SCV000292100 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Counsyl RCV000114504 SCV000488426 benign Familial cancer of breast 2016-03-28 criteria provided, single submitter clinical testing
GeneDx RCV000121756 SCV000170853 benign not specified 2013-10-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ITMI RCV000121756 SCV000085954 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000395482 SCV000396104 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000114504 SCV000153915 benign Familial cancer of breast 2017-08-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000121756 SCV000539985 likely benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 302/12994=2.3%
PALB2 database RCV000114504 SCV000148450 benign Familial cancer of breast 2012-10-18 no assertion criteria provided literature only
PALB2 database RCV000114505 SCV000148451 benign Pancreatic cancer 3 2012-10-18 no assertion criteria provided literature only
Pathway Genomics RCV000114504 SCV000207348 benign Familial cancer of breast 2014-11-06 no assertion criteria provided clinical testing
PreventionGenetics RCV000121756 SCV000314372 benign not specified criteria provided, single submitter clinical testing
True Health Diagnostics RCV000127292 SCV000788088 likely benign Hereditary cancer-predisposing syndrome 2018-02-23 no assertion criteria provided clinical testing
Vantari Genetics RCV000127292 SCV000267066 benign Hereditary cancer-predisposing syndrome 2015-10-26 criteria provided, single submitter clinical testing

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.