ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.196delinsCTC (p.Ser66fs)

dbSNP: rs1555618375
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000582657 SCV000689300 pathogenic Hereditary cancer-predisposing syndrome 2017-10-05 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003336069 SCV004044516 pathogenic Familial cancer of breast 2023-05-30 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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