ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.256-18C>T

gnomAD frequency: 0.00001  dbSNP: rs1379738285
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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 RCV000582837 SCV000688012 likely benign Hereditary cancer-predisposing syndrome 2017-04-06 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004596289 SCV005090611 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004787969 SCV005406027 likely benign BAP1-related tumor predisposition syndrome 2024-07-11 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
Labcorp Genetics (formerly Invitae), Labcorp RCV004787969 SCV005792874 likely benign BAP1-related tumor predisposition syndrome 2024-07-01 criteria provided, single submitter clinical testing

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