Submissions for variant NM_003072.5(SMARCA4):c.3435C>T (p.Pro1145=)

gnomAD frequency: 0.00028  dbSNP: rs138764713

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000233338	SCV000286045	likely benign	Rhabdoid tumor predisposition syndrome 2	2024-01-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000353618	SCV000410493	likely benign	Coffin-Siris syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000565223	SCV000663890	likely benign	Hereditary cancer-predisposing syndrome	2015-06-19	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	RCV001570008	SCV001794198	likely benign	not provided	2021-02-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000565223	SCV002532895	benign	Hereditary cancer-predisposing syndrome	2020-10-18	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV001570008	SCV004137786	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	SMARCA4: BP4, BP7
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001570008	SCV001807481	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001570008	SCV001965548	likely benign	not provided		no assertion criteria provided	clinical testing