Submissions for variant NM_177438.3(DICER1):c.996C>T (p.Tyr332=)

gnomAD frequency: 0.00002  dbSNP: rs757094384

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000457073	SCV000563466	benign	DICER1-related tumor predisposition	2025-01-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000570246	SCV000661825	likely benign	Hereditary cancer-predisposing syndrome	2017-05-01	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Sema4, Sema4	RCV000570246	SCV002533094	likely benign	Hereditary cancer-predisposing syndrome	2021-11-02	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003478051	SCV004221877	benign	not provided	2022-12-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003960117	SCV004773647	likely benign	DICER1-related disorder	2022-09-23	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).