Submissions for variant NM_004656.4(BAP1):c.1725G>A (p.Leu575=)

gnomAD frequency: 0.00004  dbSNP: rs748508800

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000529138	SCV000651862	likely benign	BAP1-related tumor predisposition syndrome	2024-01-09	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000583891	SCV000687953	likely benign	Hereditary cancer-predisposing syndrome	2017-05-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000583891	SCV001173421	likely benign	Hereditary cancer-predisposing syndrome	2015-09-13	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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	RCV001548664	SCV001768616	likely benign	not provided	2021-03-02	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000583891	SCV002537263	likely benign	Hereditary cancer-predisposing syndrome	2021-11-09	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV001548664	SCV004700653	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	BAP1: BP4, BP7