ClinVar Miner

Submissions for variant NC_000002.12:g.(?_47403011)_(47414428_?)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 RCV001033779 SCV001197086 pathogenic Hereditary nonpolyposis colorectal neoplasms 2021-08-12 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 1-5 of the MSH2 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. If EPCAM has been tested and no copy number events are reported then the 5' boundary of this event lies between the EPCAM and MSH2 genes. This is expected to result in an absent or disrupted protein product. A similar copy number variant has been observed in individual(s) with Lynch syndrome (PMID: 21642682). For these reasons, this variant has been classified as Pathogenic.

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