ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.648C>T (p.Leu216=)

gnomAD frequency: 0.00002  dbSNP: rs758650064
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572630 SCV000672788 likely benign Hereditary cancer-predisposing syndrome 2016-03-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV000572630 SCV000688037 likely benign Hereditary cancer-predisposing syndrome 2017-05-25 criteria provided, single submitter clinical testing
Invitae RCV000649829 SCV000771663 likely benign BAP1-related tumor predisposition syndrome 2024-01-31 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003320700 SCV004024930 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing

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