ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.1250+7C>G

gnomAD frequency: 0.00001  dbSNP: rs878854738
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000233988 SCV000288736 likely benign BAP1-related tumor predisposition syndrome 2025-01-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000773206 SCV000906791 likely benign Hereditary cancer-predisposing syndrome 2018-01-24 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000233988 SCV005406064 benign BAP1-related tumor predisposition syndrome 2024-07-16 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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