ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.3483T>C (p.Phe1161=)

gnomAD frequency: 0.00001  dbSNP: rs372686500
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163039 SCV000213529 likely benign Hereditary cancer-predisposing syndrome 2015-03-02 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000114629 SCV000253604 likely benign Familial cancer of breast 2024-10-15 criteria provided, single submitter clinical testing
Counsyl RCV000114629 SCV000489140 likely benign Familial cancer of breast 2016-08-26 criteria provided, single submitter clinical testing
GeneDx RCV001719855 SCV000514035 likely benign not provided 2021-03-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21285249)
Color Diagnostics, LLC DBA Color Health RCV000163039 SCV000686042 likely benign Hereditary cancer-predisposing syndrome 2016-12-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001719855 SCV001471050 likely benign not provided 2019-12-17 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001719855 SCV002774210 likely benign not provided 2021-06-23 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000114629 SCV004019640 benign Familial cancer of breast 2023-03-31 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.
Leiden Open Variation Database RCV000114629 SCV001193416 likely benign Familial cancer of breast 2019-05-13 no assertion criteria provided curation Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Marc Tischkowitz.

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.