ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2098-13T>G

dbSNP: rs2077035315
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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 RCV001184397 SCV001350361 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-07 criteria provided, single submitter clinical testing This variant causes a T>G nucleotide substitution at the -13 position of intron 14 of the BRIP1 gene. To our knowledge, functional assays have not been performed for this variant nor has this variant 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). 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 RCV002559059 SCV003285388 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2023-10-18 criteria provided, single submitter clinical testing

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