ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.5187G>A (p.Pro1729=)

gnomAD frequency: 0.00001  dbSNP: rs765113010
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000851476 SCV005876314 likely benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Hereditary Cancer Group, L’Institut d'Investigació Biomèdica de Bellvitge RCV000573620 SCV005442498 likely benign Hereditary cancer-predisposing syndrome 2024-12-19 criteria provided, single submitter clinical testing BS1, BP4, BP7
CeGaT Center for Human Genetics Tuebingen RCV000851476 SCV004811097 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing DICER1: BP4, BP7
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000851476 SCV004221859 benign not provided 2023-01-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000573620 SCV002533049 likely benign Hereditary cancer-predisposing syndrome 2020-12-23 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV000851476 SCV000993764 likely benign not provided 2018-09-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573620 SCV000669330 likely benign Hereditary cancer-predisposing syndrome 2017-11-24 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 RCV001085715 SCV000563457 likely benign DICER1-related tumor predisposition 2025-01-01 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.