ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.180_190del (p.Leu61fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003474442 SCV004211327 likely pathogenic Familial cancer of breast 2022-11-03 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003474442 SCV005404917 pathogenic Familial cancer of breast 2024-07-15 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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