ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.589-10T>G

dbSNP: rs267607770
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160523 SCV000211090 uncertain significance not provided 2015-04-30 criteria provided, single submitter clinical testing This variant is denoted MLH1 c.589-10T>G or IVS7-10T>G and consists of a T>G nucleotide substitution at the -10 position of intron 7 of the MLH1 gene. Multiple in silico models predict this variant to damage the nearby natural acceptor site, and to possibly cause abnormal gene splicing. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. The thymine (T) nucleotide that is altered is not conserved. Based on currently available information, it is unclear whether MLH1 c.589-10T>G is pathogenic or benign. We consider it to be a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001850267 SCV002211927 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-10-13 criteria provided, single submitter clinical testing

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