ClinVar Miner

Submissions for variant NC_000017.11:g.(?_43090924)_(43125483_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000707755 SCV000836865 pathogenic Hereditary breast ovarian cancer syndrome 2023-11-25 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 1-11 of the BRCA1 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). A similar copy number variant has been observed in individual(s) with breast and/or ovarian cancer (PMID: 16551709, 20232141, 21404118, 28595730). This variant is also known as deletions of exons 1-12. For these reasons, this variant has been classified as Pathogenic.

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