ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.552A>T (p.Ser184=) (rs35225190)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205167 SCV000260253 likely benign not provided 2019-02-17 criteria provided, single submitter clinical testing
GeneDx RCV000445067 SCV000523785 likely benign not specified 2017-05-26 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.
Ambry Genetics RCV000571731 SCV000662023 likely benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000445067 SCV000696171 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Color RCV000571731 SCV000911475 likely benign Hereditary cancer-predisposing syndrome 2017-11-01 criteria provided, single submitter clinical testing

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