Submissions for variant NM_003072.5(SMARCA4):c.3390G>A (p.Thr1130=)

gnomAD frequency: 0.00003  dbSNP: rs763248514

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000951510	SCV001097915	likely benign	Rhabdoid tumor predisposition syndrome 2	2024-01-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001020174	SCV001181617	likely benign	Hereditary cancer-predisposing syndrome	2017-12-28	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	RCV001560345	SCV001782734	likely benign	not provided	2021-06-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003970723	SCV004780888	likely benign	SMARCA4-related condition	2024-02-13	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).