ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.919-10T>G

gnomAD frequency: 0.00001  dbSNP: rs748497834
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000636191 SCV000757623 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2023-04-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000775424 SCV000909787 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-25 criteria provided, single submitter clinical testing
GeneDx RCV003314630 SCV004014510 uncertain significance not provided 2023-01-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV003471997 SCV004211316 uncertain significance Familial cancer of breast 2023-11-14 criteria provided, single submitter clinical testing

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