Submissions for variant NM_003073.5(SMARCB1):c.1131T>C (p.Arg377=)

gnomAD frequency: 0.00182  dbSNP: rs144863210

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000313849	SCV000332963	likely benign	not specified	2015-07-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000465162	SCV000561790	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000575989	SCV000675212	likely benign	Hereditary cancer-predisposing syndrome	2017-03-21	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	RCV000313849	SCV000718363	likely benign	not specified	2017-09-19	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Sema4, Sema4	RCV000575989	SCV002535350	likely benign	Hereditary cancer-predisposing syndrome	2020-11-12	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316460	SCV004015526	benign	Rhabdoid tumor predisposition syndrome 1	2023-07-07	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000313849	SCV005423064	benign	not specified	2024-10-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004547660	SCV004724512	likely benign	SMARCB1-related disorder	2024-05-30	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).