ClinVar Miner

Submissions for variant NC_000017.11:g.(?_7669599)_(7676604_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000708057 SCV000837167 pathogenic Li-Fraumeni syndrome 2019-01-14 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the TP53 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. Similar deletions have been observed in individuals affected with ovarian cancer, breast cancer and leiomyosarcoma (PMID: 23172776, 26681312). Loss-of-function variants in TP53 are known to be pathogenic (PMID: 20522432). For these reasons, this variant has been classified as Pathogenic.

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