ClinVar Miner

Submissions for variant NC_000013.10:g.(?_32903560)_(32905187_?)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 RCV004578295 SCV005067005 uncertain significance Hereditary breast ovarian cancer syndrome 2023-04-13 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is a gross deletion of the genomic region encompassing exon(s) 8-9 of the BRCA2 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with BRCA2-related conditions.

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