ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.729C>G (p.Ala243=)

dbSNP: rs1553645611
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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 RCV000581228 SCV000688051 likely benign Hereditary cancer-predisposing syndrome 2016-09-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001399425 SCV001601215 likely benign BAP1-related tumor predisposition syndrome 2024-05-25 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV001399425 SCV005403750 benign BAP1-related tumor predisposition syndrome 2024-07-15 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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