ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1014A>G (p.Glu338=)

dbSNP: rs1490732516
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV005235474 SCV001140784 likely benign Hereditary cancer 2025-02-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following: it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease, and/or has normal protein function, and/or has lack of segregation with disease, and/or has been detected in co-occurrence with known pathogenic variant, and/or has lack of disease association in case-control studies, and/or is located in a region inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV002067002 SCV002415799 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2023-09-21 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000990021 SCV005404906 benign Familial cancer of breast 2024-08-22 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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