ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2493-11A>G

gnomAD frequency: 0.00001  dbSNP: rs890923836
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000581242 SCV000689339 likely benign Hereditary cancer-predisposing syndrome 2017-06-02 criteria provided, single submitter clinical testing
GeneDx RCV001704691 SCV000731035 likely benign not provided 2019-06-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061781 SCV002392388 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2024-01-14 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000581242 SCV002533630 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-19 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV004787984 SCV005404103 likely benign Familial cancer of breast 2024-09-05 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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