ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.6G>T (p.Ala2=) (rs368270856)

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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 RCV000160648 SCV000213039 likely benign Hereditary cancer-predisposing syndrome 2015-02-10 criteria provided, single submitter clinical testing
Color RCV000160648 SCV000911463 likely benign Hereditary cancer-predisposing syndrome 2017-10-23 criteria provided, single submitter clinical testing
Counsyl RCV000662507 SCV000785036 likely benign Lynch syndrome I 2017-03-24 criteria provided, single submitter clinical testing
GeneDx RCV000212575 SCV000211250 benign not specified 2014-07-21 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) RCV000076685 SCV000107720 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability 0.001-0.049
Invitae RCV000524418 SCV000166285 likely benign Hereditary nonpolyposis colon cancer 2017-11-19 criteria provided, single submitter clinical testing

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