Submissions for variant NM_004656.4(BAP1):c.1729+8T>C

gnomAD frequency: 0.00364  dbSNP: rs150945583

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000225985	SCV000288742	benign	BAP1-related tumor predisposition syndrome	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000247370	SCV000310598	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000225985	SCV000445466	likely benign	BAP1-related tumor predisposition syndrome	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000247370	SCV000521692	likely benign	not specified	2017-10-20	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health	RCV000579745	SCV000682591	benign	Hereditary cancer-predisposing syndrome	2016-03-09	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000247370	SCV000859722	likely benign	not specified	2018-02-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000857988	SCV001153966	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	BAP1: BP4, BS1, BS2
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000247370	SCV002047128	benign	not specified	2021-05-18	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000247370	SCV002071060	likely benign	not specified	2021-12-30	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000579745	SCV002537264	benign	Hereditary cancer-predisposing syndrome	2020-09-06	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000247370	SCV002550721	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002494649	SCV002795915	likely benign	BAP1-related tumor predisposition syndrome; Kury-Isidor syndrome	2022-03-22	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316285	SCV004016338	benign	Melanoma, uveal, susceptibility to, 2	2023-07-07	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000857988	SCV004563901	likely benign	not provided	2023-10-23	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000857988	SCV001809041	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000247370	SCV001952556	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000857988	SCV001967339	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000857988	SCV002035408	likely benign	not provided		no assertion criteria provided	clinical testing