ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.423G>A (p.Gln141=)

dbSNP: rs786202680
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165612 SCV000216346 likely benign Hereditary cancer-predisposing syndrome 2014-08-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Counsyl RCV000409495 SCV000489452 likely benign Familial cancer of breast 2016-10-05 criteria provided, single submitter clinical testing
GeneDx RCV001721073 SCV000527880 likely benign not provided 2018-08-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000409495 SCV000561119 likely benign Familial cancer of breast 2025-01-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000165612 SCV001345560 likely benign Hereditary cancer-predisposing syndrome 2018-12-04 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000409495 SCV004019152 benign Familial cancer of breast 2023-03-30 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782271 SCV005394306 likely benign not specified 2024-09-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535115 SCV004717802 likely benign PALB2-related disorder 2020-09-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.