ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6288T>G (p.Pro2096=)

gnomAD frequency: 0.00001  dbSNP: rs372527810
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495272 SCV000578616 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Ambry Genetics RCV000573272 SCV000661259 likely benign Hereditary cancer-predisposing syndrome 2016-02-23 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 RCV000573272 SCV000688974 likely benign Hereditary cancer-predisposing syndrome 2017-11-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000595882 SCV000694956 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000586454 SCV000702267 uncertain significance not provided 2016-10-06 criteria provided, single submitter clinical testing
GeneDx RCV000586454 SCV000719372 likely benign not provided 2019-03-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086918 SCV001018611 likely benign Hereditary breast ovarian cancer syndrome 2024-11-12 criteria provided, single submitter clinical testing

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