Submissions for variant NM_003079.5(SMARCE1):c.351C>T (p.Asn117=)

gnomAD frequency: 0.00041  dbSNP: rs149613910

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000234062	SCV000287860	benign	Familial meningioma	2024-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000571987	SCV000664953	likely benign	Hereditary cancer-predisposing syndrome	2016-12-03	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	RCV001658059	SCV001874765	likely benign	not provided	2021-02-16	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001818606	SCV002072011	likely benign	not specified	2021-08-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001658059	SCV004138292	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	SMARCE1: BP4, BP7