ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2490dup (p.Arg831Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003337009 SCV004044446 pathogenic Familial cancer of breast 2023-06-07 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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