Submissions for variant NM_003073.5(SMARCB1):c.444C>T (p.Ser148=)

gnomAD frequency: 0.00115  dbSNP: rs138184483

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000592528	SCV000561789	benign	not provided	2024-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000568751	SCV000675208	likely benign	Hereditary cancer-predisposing syndrome	2017-02-13	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Eurofins Ntd Llc (ga)	RCV000592528	SCV000704089	uncertain significance	not provided	2017-01-16	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000568751	SCV002535359	benign	Hereditary cancer-predisposing syndrome	2021-04-15	criteria provided, single submitter	curation
PreventionGenetics, part of Exact Sciences	RCV003960108	SCV004774511	likely benign	SMARCB1-related condition	2019-07-08	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).