Submissions for variant NM_177438.3(DICER1):c.3213A>G (p.Arg1071=)

gnomAD frequency: 0.00123  dbSNP: rs148959399

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000231354	SCV000291654	benign	DICER1-related tumor predisposition	2025-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000563300	SCV000661807	likely benign	Hereditary cancer-predisposing syndrome	2017-03-06	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.
Illumina Laboratory Services, Illumina	RCV000231354	SCV001276173	benign	DICER1-related tumor predisposition	2018-01-12	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812656	SCV002047805	likely benign	not provided	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001812656	SCV002107301	likely benign	not provided	2021-03-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23620094)
Sema4, Sema4	RCV000563300	SCV002532537	benign	Hereditary cancer-predisposing syndrome	2020-09-10	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV002503917	SCV002807631	likely benign	Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma; Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	2021-09-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001812656	SCV005075452	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	DICER1: BP4, BP7, BS1
Breakthrough Genomics, Breakthrough Genomics	RCV001812656	SCV005210859	likely benign	not provided		criteria provided, single submitter	not provided