ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.2103+6G>T (rs1057521607)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437903 SCV000523770 likely benign not specified 2018-01-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000550196 SCV000625126 likely benign Hereditary nonpolyposis colon cancer 2019-12-01 criteria provided, single submitter clinical testing
Color RCV000582524 SCV000689864 likely benign Hereditary cancer-predisposing syndrome 2017-06-22 criteria provided, single submitter clinical testing

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