Submissions for variant NM_003072.5(SMARCA4):c.2967C>T (p.Pro989=)

gnomAD frequency: 0.00051  dbSNP: rs149874634

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000195161	SCV000248962	uncertain significance	not specified	2015-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV000226868	SCV000286037	benign	Rhabdoid tumor predisposition syndrome 2	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000570901	SCV000663891	likely benign	Hereditary cancer-predisposing syndrome	2018-09-14	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	RCV001561165	SCV001783709	likely benign	not provided	2020-10-20	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001808542	SCV002056192	likely benign	Intellectual disability, autosomal dominant 16	2021-07-15	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000570901	SCV002532870	benign	Hereditary cancer-predisposing syndrome	2020-12-22	criteria provided, single submitter	curation
PreventionGenetics, part of Exact Sciences	RCV003947615	SCV004762699	likely benign	SMARCA4-related disorder	2023-02-08	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).