ClinVar Miner

Submissions for variant NC_000016.10:g.68737131C>A

gnomAD frequency: 0.24474  dbSNP: rs16260
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen CDH1 Variant Curation Expert Panel RCV003328158 SCV001437607 benign CDH1-related diffuse gastric and lobular breast cancer syndrome 2023-08-10 reviewed by expert panel curation The NM_004360.4(CDH1):c.-124-161C>A variant has an allele frequency of 0.27733 (27.73%, 4262/15368 alleles, 578 homozygotes) in the European (Non-Finnish) subpopulation of the gnomAD v2.1.1 cohort (BA1; BP2). Therefore, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the CDH1 Variant Curation Expert Panel (Variant Interpretation Guidelines Version 3.1): BA1, BP2.
Labcorp Genetics (formerly Invitae), Labcorp RCV001260567 SCV001729141 benign Hereditary diffuse gastric adenocarcinoma 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001610289 SCV001837256 benign not provided 2018-06-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23231047, 24491043, 11896626, 10706097, 24023817, 22792244, 17960397, 21997289, 19569232, 16189707, 22194161, 18781193, 21214416, 20462505, 17201188)
Breakthrough Genomics, Breakthrough Genomics RCV001610289 SCV005255427 benign not provided criteria provided, single submitter not provided
OMIM RCV004794334 SCV000033279 benign Prostate cancer susceptibility 2005-12-01 no assertion criteria provided literature only

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.