ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.931+8G>A

gnomAD frequency: 0.00002  dbSNP: rs573724882
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556424 SCV000651907 likely benign BAP1-related tumor predisposition syndrome 2023-11-27 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000773123 SCV000906617 likely benign Hereditary cancer-predisposing syndrome 2016-06-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506363 SCV002805363 likely benign BAP1-related tumor predisposition syndrome; Kury-Isidor syndrome 2022-05-24 criteria provided, single submitter clinical testing

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