ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.5095+13C>T

gnomAD frequency: 0.00577  dbSNP: rs116247322
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315795 SCV004017406 benign Pleuropulmonary blastoma 2023-07-07 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000122373 SCV002551480 benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001119395 SCV002414487 benign DICER1-related tumor predisposition 2025-02-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811981 SCV001477758 benign not provided 2023-10-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001119395 SCV001277789 benign DICER1-related tumor predisposition 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000122373 SCV000519039 likely benign not specified 2016-10-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV000122373 SCV000314678 benign not specified 2015-10-27 criteria provided, single submitter clinical testing
ITMI RCV000122373 SCV000083924 not provided not specified 2013-09-19 no assertion provided reference population

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