ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.879G>A (p.Pro293=)

gnomAD frequency: 0.00013  dbSNP: rs200787553
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470804 SCV000563737 likely benign BAP1-related tumor predisposition syndrome 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572992 SCV000672745 likely benign Hereditary cancer-predisposing syndrome 2015-11-12 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 RCV000572992 SCV000682655 likely benign Hereditary cancer-predisposing syndrome 2016-06-24 criteria provided, single submitter clinical testing
GeneDx RCV001560038 SCV001782370 likely benign not provided 2021-08-30 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000572992 SCV002537298 likely benign Hereditary cancer-predisposing syndrome 2021-11-02 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268114 SCV002550827 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing

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