ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.(?_-1)_(80+1_81-1)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneKor MSA RCV000708767 SCV000822214 pathogenic Hereditary cancer-predisposing syndrome 2020-01-01 criteria provided, single submitter clinical testing This variant is a large genomic deletion which encompasses two exons (1-2) of the BRCA1 gene. Truncating variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been described in the international literature in individuals undergoing panel testing for hereditary syndrome (PMID: 31159747).

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