ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.3459C>T (p.Cys1153=)

gnomAD frequency: 0.00001  dbSNP: rs1300692476
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000654496 SCV000776390 likely benign DICER1-related tumor predisposition 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001020351 SCV001181817 likely benign Hereditary cancer-predisposing syndrome 2019-04-06 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.
Sema4, Sema4 RCV001020351 SCV002532551 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-25 criteria provided, single submitter curation
Breakthrough Genomics, Breakthrough Genomics RCV004705768 SCV005210857 likely benign not provided criteria provided, single submitter not provided
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV005231245 SCV005872890 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing

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