Submissions for variant NM_003079.5(SMARCE1):c.1231G>T (p.Glu411Ter)

gnomAD frequency: 0.00398  dbSNP: rs62622817

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000230777	SCV000287856	benign	Familial meningioma	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000573486	SCV000664982	likely benign	Hereditary cancer-predisposing syndrome	2018-12-28	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	RCV001689758	SCV001912221	benign	not provided	2019-03-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27149204, 23198860)
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316259	SCV004015530	benign	Rhabdoid tumor predisposition syndrome 1	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001689758	SCV004138285	benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	SMARCE1: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001689758	SCV005219806	likely benign	not provided		criteria provided, single submitter	not provided