ClinVar Miner

Submissions for variant NC_000017.10:g.(?_59861717)_(59987228_?)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 RCV004581206 SCV005065300 pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2023-10-26 criteria provided, single submitter clinical testing This variant results in the deletion of exons 1-10 and part of exon 11 (c.-46614_1542del) of the BRIP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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