ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.174C>G (p.Ser58=)

gnomAD frequency: 0.00001  dbSNP: rs776102639
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546453 SCV000651863 likely benign BAP1-related tumor predisposition syndrome 2024-01-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000583147 SCV000687958 likely benign Hereditary cancer-predisposing syndrome 2017-08-31 criteria provided, single submitter clinical testing
GeneDx RCV001779004 SCV002015227 likely benign not provided 2020-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000583147 SCV002711626 likely benign Hereditary cancer-predisposing syndrome 2019-10-01 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.

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