ClinVar Miner

Submissions for variant NC_000017.10:g.(?_41267778)_(41280110_?)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 RCV003109650 SCV003791640 pathogenic Hereditary breast ovarian cancer syndrome 2022-10-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant results in the deletion of exons 1-2 and part of exon 3 (c.-2842_99del) of the BRCA1 gene. 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).

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