ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.927C>T (p.Pro309=) (rs63749896)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000524322 SCV000260131 likely benign Hereditary nonpolyposis colorectal neoplasms 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000219267 SCV000275915 likely benign Hereditary cancer-predisposing syndrome 2015-06-02 criteria provided, single submitter clinical testing
GeneDx RCV000436654 SCV000523810 likely benign not specified 2017-08-08 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 RCV000219267 SCV000689931 likely benign Hereditary cancer-predisposing syndrome 2016-08-06 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000436654 SCV000696190 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Counsyl RCV000663231 SCV000786433 likely benign Lynch syndrome II 2018-05-04 criteria provided, single submitter clinical testing

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