ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.3649T>A (p.Tyr1217Asn)

dbSNP: rs1891127892
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV001201013 SCV001372000 likely benign not specified 2019-07-01 criteria provided, single submitter curation ACMG criteria met: BS3, BP1, BP2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV005055452 SCV005689686 likely benign DICER1-related tumor predisposition 2025-01-24 criteria provided, single submitter clinical testing The following ACMG criteria have been used in classification: PM2_SUP; BP2; BP4

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