Submissions for variant NM_004656.4(BAP1):c.177G>A (p.Arg59=)

gnomAD frequency: 0.00001  dbSNP: rs770446947

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000226451	SCV000288745	likely benign	BAP1-related tumor predisposition syndrome	2025-01-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000226451	SCV000445487	uncertain significance	BAP1-related tumor predisposition syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000580973	SCV000682596	likely benign	Hereditary cancer-predisposing syndrome	2016-12-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000580973	SCV001173699	likely benign	Hereditary cancer-predisposing syndrome	2015-08-11	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	RCV001706262	SCV001820489	likely benign	not provided	2021-06-22	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001706262	SCV004221331	likely benign	not provided	2022-12-07	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000226451	SCV005406193	benign	BAP1-related tumor predisposition syndrome	2024-07-11	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.