ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2005+8dup (rs267607992)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000128999 SCV000172894 likely benign Hereditary cancer-predisposing syndrome 2012-08-14 criteria provided, single submitter clinical testing
Color RCV000128999 SCV000684996 benign Hereditary cancer-predisposing syndrome 2016-10-07 criteria provided, single submitter clinical testing
Counsyl RCV000410189 SCV000488565 likely benign Lynch syndrome I 2016-05-05 criteria provided, single submitter clinical testing
GeneDx RCV000484642 SCV000565188 likely benign not specified 2017-03-30 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) RCV000076345 SCV000107369 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research Intronic substitution with no effect on splicing tested using an NMD inhibitor
Invitae RCV000524370 SCV000284130 benign Hereditary nonpolyposis colon cancer 2018-01-01 criteria provided, single submitter clinical testing
Mendelics RCV000076345 SCV000837843 uncertain significance Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing

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