ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.6T>C (p.Asn2=)

gnomAD frequency: 0.00005  dbSNP: rs753081347
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000582331 SCV000688049 likely benign Hereditary cancer-predisposing syndrome 2017-08-30 criteria provided, single submitter clinical testing
Invitae RCV000649811 SCV000771645 likely benign BAP1-related tumor predisposition syndrome 2023-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000582331 SCV002665317 likely benign Hereditary cancer-predisposing syndrome 2020-07-20 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316765 SCV004016347 likely benign Melanoma, uveal, susceptibility to, 2 2023-07-07 criteria provided, single submitter clinical testing

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