Submissions for variant NM_003072.5(SMARCA4):c.4344C>T (p.Ala1448=)

gnomAD frequency: 0.00008  dbSNP: rs200087760

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000234011	SCV000286094	likely benign	Rhabdoid tumor predisposition syndrome 2	2025-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000571370	SCV000663954	likely benign	Hereditary cancer-predisposing syndrome	2015-06-26	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.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001800593	SCV002047067	benign	not provided	2021-05-13	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001808629	SCV002057105	benign	Intellectual disability, autosomal dominant 16	2021-07-15	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000571370	SCV002532980	likely benign	Hereditary cancer-predisposing syndrome	2020-12-19	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV001800593	SCV004137793	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	SMARCA4: BP4, BP7