ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3054G>A (p.Lys1018=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002839564 SCV003220172 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2024-11-19 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004790253 SCV005406462 benign Familial cancer of breast 2024-09-09 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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