ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.628-15dup

dbSNP: rs2078118670
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001182674 SCV001348188 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-08 criteria provided, single submitter clinical testing This variant causes duplication of 1 nucleotide in intron 6 of the BRIP1 gene. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV003770005 SCV004571585 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2023-07-26 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004789432 SCV005403444 likely benign Familial cancer of breast 2024-08-21 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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