ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2493-50G>T

gnomAD frequency: 0.00191  dbSNP: rs142108255
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002226317 SCV002505020 likely benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268630 SCV002551165 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing

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