ClinVar Miner

Submissions for variant NC_000017.11:g.(?_43044295)_(43124115_?)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 RCV000210514 SCV000266808 pathogenic Hereditary breast ovarian cancer syndrome 2016-11-06 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the BRCA1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Loss-of-function variants in BRCA1 are known to be pathogenic. Gross deletions of the BRCA1 gene have been reported in families and individuals affected with breast/ovarian cancer (PMID: 17661172, 21989022, 22762150). For these reasons, this variant has been classified as Pathogenic.

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