ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.399C>T (p.Asp133=) (rs61756462)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164131 SCV000214746 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000164131 SCV000910871 likely benign Hereditary cancer-predisposing syndrome 2016-04-28 criteria provided, single submitter clinical testing
Counsyl RCV000663052 SCV000786102 uncertain significance Lynch syndrome I 2018-02-23 criteria provided, single submitter clinical testing
GeneDx RCV000608950 SCV000728921 benign not specified 2015-04-29 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) RCV000076594 SCV000107627 uncertain significance Lynch syndrome 2013-09-05 reviewed by expert panel research Insufficient evidence
Invitae RCV000524407 SCV000559229 likely benign Hereditary nonpolyposis colon cancer 2017-09-11 criteria provided, single submitter clinical testing

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