ClinVar Miner

Submissions for variant NC_000003.12:g.(?_37040183)_(37063791_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV004765107 SCV005374602 likely pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 criteria provided, single submitter clinical testing A heterozygous contiguous deletion of size 23.61 kb, spanning genomic location chr3:g.(?_37040183)_(37063791_?)del that encompasses MLH1 and LRRFIP2 genes was identified. Exonic deletions in the MLH1 gene have been reported in Lynch syndrome patients. This variant has been classified as likely pathogenic according to the ACMG-AMP classification system and ClinGen framework.

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