ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.734+6C>T

gnomAD frequency: 0.00006  dbSNP: rs200212137
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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 RCV000228270 SCV000291725 likely benign DICER1-related tumor predisposition 2025-02-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255338 SCV002533080 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-05 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002465601 SCV002760795 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002255338 SCV004848982 uncertain significance Hereditary cancer-predisposing syndrome 2016-11-23 criteria provided, single submitter clinical testing The c.734+6C>T intronic alteration consists of a C to T substitution nucleotides after coding exon 5 in the DICER1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003967670 SCV004782207 likely benign DICER1-related disorder 2023-03-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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