ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.5203C>T (p.Leu1735=)

gnomAD frequency: 0.00059  dbSNP: rs188609628
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001812657 SCV004221860 benign not provided 2022-12-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001812657 SCV004130315 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing DICER1: BP4, BP7
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV001820775 SCV002760769 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000573625 SCV002533052 likely benign Hereditary cancer-predisposing syndrome 2021-10-26 criteria provided, single submitter curation
Genetic Services Laboratory, University of Chicago RCV001820775 SCV002065228 likely benign not specified 2021-05-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812657 SCV002048715 likely benign not provided 2021-09-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573625 SCV000661843 likely benign Hereditary cancer-predisposing syndrome 2017-04-04 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 RCV000229393 SCV000291708 benign DICER1-related tumor predisposition 2025-01-23 criteria provided, single submitter clinical testing

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