ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.210C>T (p.Ser70=)

gnomAD frequency: 0.00002  dbSNP: rs558581070
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575751 SCV000672777 likely benign Hereditary cancer-predisposing syndrome 2017-02-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 RCV000575751 SCV000688002 likely benign Hereditary cancer-predisposing syndrome 2017-01-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000869660 SCV001011104 likely benign BAP1-related tumor predisposition syndrome 2024-01-16 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000575751 SCV002537280 likely benign Hereditary cancer-predisposing syndrome 2020-08-25 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002465723 SCV002760310 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316745 SCV004016326 likely benign Melanoma, uveal, susceptibility to, 2 2023-07-07 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000869660 SCV005404836 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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