ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1344C>T (p.Ser448=) (rs1010360604)

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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 RCV000574941 SCV000662207 likely benign Hereditary cancer-predisposing syndrome 2016-04-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000574941 SCV000912949 likely benign Hereditary cancer-predisposing syndrome 2018-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000607191 SCV000716490 likely benign not specified 2017-02-27 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.
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000680204 SCV000807668 likely benign Lynch syndrome I 2018-06-13 reviewed by expert panel curation Multifactorial likelihood analysis posterior probability < 0.05 (0.009)
Invitae RCV000554163 SCV000625253 likely benign Hereditary nonpolyposis colon cancer 2017-08-03 criteria provided, single submitter clinical testing

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