ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.1117-15T>C

gnomAD frequency: 0.00001  dbSNP: rs746597746
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000584631 SCV000687899 likely benign Hereditary cancer-predisposing syndrome 2017-09-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061701 SCV002361725 likely benign BAP1-related tumor predisposition syndrome 2024-03-16 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV002061701 SCV005406206 benign BAP1-related tumor predisposition syndrome 2024-07-15 criteria provided, single submitter clinical testing This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.

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