ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1159G>T (p.Glu387Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003336982 SCV004044385 pathogenic Familial cancer of breast 2023-06-01 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.
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697283 SCV005197340 pathogenic not provided 2023-02-03 criteria provided, single submitter clinical testing

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