ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.39C>A (p.Gly13=)

dbSNP: rs2153228634
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002137402 SCV002410993 likely benign BAP1-related tumor predisposition syndrome 2021-11-16 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV002137402 SCV005407621 benign BAP1-related tumor predisposition syndrome 2024-07-11 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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