ClinVar Miner

Submissions for variant NC_000017.11:g.(?_7669603)_(7676600_?)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 RCV000633418 SCV000754640 pathogenic Li-Fraumeni syndrome 2017-08-14 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. This variant has been reported in individuals affected with ovarian cancer, breast cancer and leiomyosarcoma (PMID: 26681312, 23172776). 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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