Submissions for variant NM_003072.5(SMARCA4):c.3552G>A (p.Leu1184=)

gnomAD frequency: 0.00004  dbSNP: rs368250779

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000234581	SCV000286048	likely benign	Rhabdoid tumor predisposition syndrome 2	2024-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000573891	SCV000663903	likely benign	Hereditary cancer-predisposing syndrome	2015-08-20	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	RCV000573891	SCV002532902	likely benign	Hereditary cancer-predisposing syndrome	2021-12-17	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV002500769	SCV002807056	likely benign	Rhabdoid tumor predisposition syndrome 2; Intellectual disability, autosomal dominant 16	2022-05-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003929947	SCV004737592	likely benign	SMARCA4-related disorder	2021-12-08	criteria provided, single submitter	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).