Submissions for variant NM_003072.5(SMARCA4):c.2049C>T (p.Pro683=)

gnomAD frequency: 0.00022  dbSNP: rs138878490

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000470346	SCV000559415	likely benign	Rhabdoid tumor predisposition syndrome 2	2024-01-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000572714	SCV000663940	likely benign	Hereditary cancer-predisposing syndrome	2015-09-19	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.
GeneDx	RCV001712435	SCV000722698	likely benign	not provided	2020-10-09	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000572714	SCV002532812	benign	Hereditary cancer-predisposing syndrome	2022-01-12	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV001712435	SCV004137774	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	SMARCA4: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003899976	SCV004717084	likely benign	SMARCA4-related disorder	2022-06-20	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).