ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.783G>A (p.Gln261=)

gnomAD frequency: 0.00377  dbSNP: rs35003777
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231514 SCV000288761 benign BAP1-related tumor predisposition syndrome 2024-01-31 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000243594 SCV000310603 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000231514 SCV000445480 likely benign BAP1-related tumor predisposition syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001705267 SCV000519036 benign not provided 2019-04-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28062663)
Ambry Genetics RCV000574757 SCV000672734 benign Hereditary cancer-predisposing syndrome 2015-10-14 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV000574757 SCV000682646 benign Hereditary cancer-predisposing syndrome 2016-03-18 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000243594 SCV002046835 benign not specified 2021-04-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000243594 SCV002071063 benign not specified 2019-08-23 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000243594 SCV002550830 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316289 SCV004016333 benign Melanoma, uveal, susceptibility to, 2 2023-07-07 criteria provided, single submitter clinical testing

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