Submissions for variant NM_003072.5(SMARCA4):c.2832C>T (p.Asn944=)

gnomAD frequency: 0.00004  dbSNP: rs764939990

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000226074	SCV000286034	likely benign	Rhabdoid tumor predisposition syndrome 2	2024-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000302262	SCV000410489	uncertain significance	Coffin-Siris syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000575056	SCV000664052	likely benign	Hereditary cancer-predisposing syndrome	2015-06-28	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	RCV001594880	SCV001829610	likely benign	not provided	2020-02-13	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001808613	SCV002056187	likely benign	Intellectual disability, autosomal dominant 16	2021-07-15	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000575056	SCV002532865	likely benign	Hereditary cancer-predisposing syndrome	2021-08-17	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001594880	SCV004220415	likely benign	not provided	2022-09-13	criteria provided, single submitter	clinical testing