Submissions for variant NM_003072.5(SMARCA4):c.3732C>T (p.Arg1244=)

dbSNP: rs797045983

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192667	SCV000248965	uncertain significance	not specified	2014-09-26	criteria provided, single submitter	clinical testing
Invitae	RCV000463151	SCV000559331	likely benign	Rhabdoid tumor predisposition syndrome 2	2023-12-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000575579	SCV000675149	likely benign	Hereditary cancer-predisposing syndrome	2016-06-03	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.
Genome-Nilou Lab	RCV001808544	SCV002056208	likely benign	Intellectual disability, autosomal dominant 16	2021-07-15	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000575579	SCV002532915	likely benign	Hereditary cancer-predisposing syndrome	2021-12-25	criteria provided, single submitter	curation