Submissions for variant NM_177438.3(DICER1):c.1377-4T>G

gnomAD frequency: 0.00240  dbSNP: rs192490028

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081251	SCV000261709	benign	DICER1-related tumor predisposition	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001081251	SCV000389765	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.
Ambry Genetics	RCV000494354	SCV000581566	benign	Hereditary cancer-predisposing syndrome	2017-03-30	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Genetic Services Laboratory, University of Chicago	RCV000499557	SCV000594365	likely benign	not specified	2016-05-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000499557	SCV000730722	benign	not specified	2017-11-03	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	RCV000499557	SCV000993720	benign	not specified	2017-02-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000205198	SCV001149327	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	DICER1: BP4, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000205198	SCV001159498	benign	not provided	2022-10-21	criteria provided, single submitter	clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research	RCV000499557	SCV001372133	likely benign	not specified	2019-07-01	criteria provided, single submitter	curation	ACMG criteria met: BS1, BP4
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000499557	SCV002046975	benign	not specified	2021-05-20	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000499557	SCV002551560	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002500657	SCV002813098	likely benign	Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma; Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	2022-04-22	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316146	SCV004017387	benign	Pleuropulmonary blastoma	2023-07-07	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000205198	SCV002037358	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000205198	SCV002038066	likely benign	not provided		no assertion criteria provided	clinical testing