ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.380-6T>C

dbSNP: rs780921390
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000636207 SCV000757639 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2023-11-02 criteria provided, single submitter clinical testing
Mendelics RCV000990038 SCV001140802 likely benign Familial cancer of breast 2019-05-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001185471 SCV001351675 likely benign Hereditary cancer-predisposing syndrome 2020-05-11 criteria provided, single submitter clinical testing
GeneDx RCV001584468 SCV001811404 uncertain significance not provided 2021-04-07 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526727 SCV005039188 uncertain significance not specified 2024-03-23 criteria provided, single submitter clinical testing

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