ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1182A>G (p.Glu394=)

dbSNP: rs1555607195
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507851 SCV000600890 uncertain significance not specified 2016-11-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060165 SCV002389267 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2023-11-25 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004787815 SCV005402926 benign Familial cancer of breast 2024-08-26 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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