ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.38-11G>A

gnomAD frequency: 0.00003  dbSNP: rs768279336
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603780 SCV000727716 likely benign not specified 2018-02-13 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 RCV000774757 SCV000908704 likely benign Hereditary cancer-predisposing syndrome 2019-12-03 criteria provided, single submitter clinical testing
Invitae RCV002064316 SCV002323172 likely benign BAP1-related tumor predisposition syndrome 2024-01-24 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000774757 SCV002537284 likely benign Hereditary cancer-predisposing syndrome 2021-08-23 criteria provided, single submitter curation

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