ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.24T>A (p.Ile8=) (rs748406142)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163705 SCV000214279 likely benign Hereditary cancer-predisposing syndrome 2015-06-30 criteria provided, single submitter clinical testing
Color RCV000163705 SCV000684808 likely benign Hereditary cancer-predisposing syndrome 2017-03-30 criteria provided, single submitter clinical testing
GeneDx RCV000422308 SCV000520531 likely benign not specified 2015-11-04 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 RCV000205146 SCV000259912 likely benign Hereditary nonpolyposis colon cancer 2017-11-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759085 SCV000888181 benign not provided 2018-01-17 criteria provided, single submitter clinical testing

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