Submissions for variant NM_004656.4(BAP1):c.675C>T (p.Asp225=)

dbSNP: rs961974192

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000584546	SCV000688045	likely benign	Hereditary cancer-predisposing syndrome	2016-12-12	criteria provided, single submitter	clinical testing
Invitae	RCV001397532	SCV001599283	likely benign	BAP1-related tumor predisposition syndrome	2018-12-24	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821700	SCV002070116	uncertain significance	not specified	2020-02-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000584546	SCV002666467	likely benign	Hereditary cancer-predisposing syndrome	2022-06-07	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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316764	SCV004016335	likely benign	Melanoma, uveal, susceptibility to, 2	2023-07-07	criteria provided, single submitter	clinical testing