ClinVar Miner

Submissions for variant NC_000002.12:g.(?_47403067)_(47483228_?)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 RCV000456453 SCV000563903 pathogenic Lynch syndrome 2016-10-12 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the MSH2 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. Loss-of-function variants in MSH2 are known to be pathogenic. Deletion of the entire MSH2 gene has been reported in individuals affected with endometrial, prostate, and breast cancer (PMID: 24323032, 25117503, 22691310), Lynch syndrome (PMID: 16837128, 22782591), and suspected Lynch syndrome (PMID: 11857745, 15475941). For these reasons, this variant has been classified as Pathogenic.

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