Submissions for variant NM_177438.3(DICER1):c.4206+9del

gnomAD frequency: 0.01007  dbSNP: rs368080354

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001514649	SCV001722549	benign	DICER1-related tumor predisposition	2025-02-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001702601	SCV002068601	benign	not specified	2022-01-11	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV001702601	SCV002551517	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002329651	SCV002631530	benign	Hereditary cancer-predisposing syndrome	2019-05-13	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.
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV005400506	SCV006055347	benign	Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma; Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	2021-08-18	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529704	SCV001743615	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702601	SCV001928397	benign	not specified		no assertion criteria provided	clinical testing