ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.186C>T (p.Val62=)

gnomAD frequency: 0.00009  dbSNP: rs199608453
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085850 SCV000651869 likely benign BAP1-related tumor predisposition syndrome 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563584 SCV000672772 likely benign Hereditary cancer-predisposing syndrome 2017-01-23 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 RCV000563584 SCV000687970 likely benign Hereditary cancer-predisposing syndrome 2016-12-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732273 SCV000860201 uncertain significance not provided 2018-03-27 criteria provided, single submitter clinical testing
GeneDx RCV000732273 SCV001764002 likely benign not provided 2020-10-06 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000563584 SCV002537269 likely benign Hereditary cancer-predisposing syndrome 2021-02-04 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000732273 SCV004221364 likely benign not provided 2023-07-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980004 SCV004792949 likely benign BAP1-related condition 2020-03-16 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).

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