ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.681C>T (p.Arg227=)

gnomAD frequency: 0.00004  dbSNP: rs772237661
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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 RCV000566336 SCV000672758 likely benign Hereditary cancer-predisposing syndrome 2016-06-27 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 RCV000566336 SCV000688048 likely benign Hereditary cancer-predisposing syndrome 2016-08-15 criteria provided, single submitter clinical testing
Invitae RCV000649847 SCV000771681 likely benign BAP1-related tumor predisposition syndrome 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001555403 SCV001776817 likely benign not provided 2019-09-16 criteria provided, single submitter clinical testing

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