Submissions for variant NM_003073.5(SMARCB1):c.1116G>A (p.Thr372=)

gnomAD frequency: 0.00010  dbSNP: rs117084604

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000468029	SCV000561796	benign	not provided	2024-01-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000575853	SCV000675209	likely benign	Hereditary cancer-predisposing syndrome	2017-02-17	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	RCV000468029	SCV001745507	likely benign	not provided	2020-09-04	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821377	SCV002070836	likely benign	not specified	2019-01-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000468029	SCV005093426	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	SMARCB1: BP4, BP7, BS1
Breakthrough Genomics, Breakthrough Genomics	RCV000468029	SCV005209087	likely benign	not provided		criteria provided, single submitter	not provided