Submissions for variant NM_177438.3(DICER1):c.1510-4dup

dbSNP: rs546524688

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000204416	SCV000261259	benign	DICER1-related tumor predisposition	2025-02-04	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000370848	SCV000389762	likely benign	Pleuropulmonary blastoma	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000494483	SCV000581592	benign	Hereditary cancer-predisposing syndrome	2016-06-01	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812208	SCV002048502	benign	not provided	2021-10-08	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000494483	SCV002532460	benign	Hereditary cancer-predisposing syndrome	2020-09-10	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV002465564	SCV002760791	benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV002465564	SCV002774357	benign	not specified	2021-08-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001812208	SCV004130330	benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	DICER1: BP4, BS1, BS2