ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.884+6G>A (rs1575496158)

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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 RCV000999648 SCV001135004 uncertain significance Lynch syndrome II 2019-11-26 criteria provided, single submitter clinical testing Identified heterozygous variant (c.884+6G>A) that occurs downstream of the splice donor site, in intron 10 of the MLH1 gene. In silico splice prediction tools (ASSP and NNSPLICE) suggest that this variant is unlikely to affect splicing or create alternate cryptic splice site. The identified variant seems to be a novel variant as it has not been previously reported in literature. In summary, the variant meets our criteria to be classified as variant of unknown significance.

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