Submissions for variant NM_004656.4(BAP1):c.1224C>T (p.Asp408=)

gnomAD frequency: 0.00003  dbSNP: rs755110121

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000460361	SCV000563730	likely benign	BAP1-related tumor predisposition syndrome	2024-01-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000564152	SCV000672752	likely benign	Hereditary cancer-predisposing syndrome	2016-04-15	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.
Color Diagnostics, LLC DBA Color Health	RCV000564152	SCV000908683	likely benign	Hereditary cancer-predisposing syndrome	2018-09-05	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821385	SCV002070424	likely benign	not specified	2021-12-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003932774	SCV004753758	likely benign	BAP1-related condition	2019-10-28	criteria provided, single submitter	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).