ClinVar Miner

Submissions for variant NC_000002.12:g.(?_47403011)_(47408565_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001033116 SCV001196423 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2022-04-16 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 1-2 of the MSH2 gene. The boundaries of this event extend beyond the assayed region for this gene and therefore may encompass additional genes. However, if EPCAM has been tested and no copy number events are reported then the 5' boundary of this event may lie between the EPCAM and MSH2 genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals affected with MSH2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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