ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.205+3A>G

gnomAD frequency: 0.00001  dbSNP: rs539329589
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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 RCV000583027 SCV000689309 likely benign Hereditary cancer-predisposing syndrome 2017-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001426470 SCV001629123 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000583027 SCV002726535 uncertain significance Hereditary cancer-predisposing syndrome 2021-03-05 criteria provided, single submitter clinical testing The c.205+3A>G intronic variant results from an A to G substitution 3 nucleotides after coding exon 2 in the BRIP1 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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