ClinVar Miner

Submissions for variant NM_007294.3:c.(4986+1_4987-1)_(5074+1_5075-1)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001376088 SCV001573102 likely pathogenic Hereditary cancer-predisposing syndrome 2020-03-02 criteria provided, single submitter clinical testing The EX15dup gross duplication spans coding exon 15 in the BRCA1 gene; however, the exact breakpoints of the duplication were not determined. This alteration has been identified as a tandem duplication in at least one case and is predicted to lead to a frameshift with premature termination codon (Ambry internal data). Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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