ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1039-6dup (rs1553650466)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000128968 SCV000172851 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Invitae RCV000233923 SCV000283996 benign Hereditary nonpolyposis colorectal neoplasms 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000616382 SCV000729361 benign not specified 2018-03-18 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.
Color RCV000128968 SCV001345272 likely benign Hereditary cancer-predisposing syndrome 2019-05-31 criteria provided, single submitter clinical testing

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