Submissions for variant NM_003073.5(SMARCB1):c.987-5C>T

gnomAD frequency: 0.00006  dbSNP: rs781136700

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000474410	SCV000561788	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000568873	SCV000675211	likely benign	Hereditary cancer-predisposing syndrome	2022-08-17	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.
Sema4, Sema4	RCV000568873	SCV002535375	benign	Hereditary cancer-predisposing syndrome	2021-12-16	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV000474410	SCV004152290	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	SMARCB1: BP4, BS1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004586725	SCV005075895	benign	not specified	2024-04-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004551566	SCV004773701	likely benign	SMARCB1-related disorder	2023-07-07	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).