ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.2057-16C>T

dbSNP: rs369116884
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000584167 SCV000687993 likely benign Hereditary cancer-predisposing syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061713 SCV002412863 likely benign BAP1-related tumor predisposition syndrome 2024-10-03 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493670 SCV004243159 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV002061713 SCV005407390 likely benign BAP1-related tumor predisposition syndrome 2024-07-17 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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