Submissions for variant NM_177438.3(DICER1):c.1907+105C>T

gnomAD frequency: 0.22841  dbSNP: rs2275182

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000609917	SCV000729752	benign	not specified	2018-01-02	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	RCV000609917	SCV000993729	benign	not specified	2018-07-06	criteria provided, single submitter	clinical testing
Mendelics	RCV000989256	SCV001139511	benign	DICER1-related tumor predisposition	2019-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000860767	SCV001159497	benign	not provided	2022-09-13	criteria provided, single submitter	clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research	RCV000609917	SCV001371889	uncertain significance	not specified	2019-07-01	criteria provided, single submitter	curation	ACMG criteria met: None
Labcorp Genetics (formerly Invitae), Labcorp	RCV000989256	SCV001729057	benign	DICER1-related tumor predisposition	2021-12-18	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000609917	SCV004848229	benign	not specified	2018-08-22	criteria provided, single submitter	clinical testing	The c.1907+105C>T variant in DICER1 is classified as benign because it has been identified in 22% (6927/30906) of total chromosomes, including 847 homozygotes, by the Genome Aggregation Database (gnomAD; http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.