ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2061C>G (p.Leu687=) (rs63750032)

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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 RCV000165457 SCV000216187 likely benign Hereditary cancer-predisposing syndrome 2014-08-27 criteria provided, single submitter clinical testing
Invitae RCV001084676 SCV000260986 likely benign Hereditary nonpolyposis colon cancer 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000410055 SCV000489412 likely benign Lynch syndrome I 2016-10-03 criteria provided, single submitter clinical testing
GeneDx RCV000418816 SCV000516738 likely benign not specified 2017-12-11 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 RCV000165457 SCV000685005 likely benign Hereditary cancer-predisposing syndrome 2015-07-20 criteria provided, single submitter clinical testing
Mendelics RCV000410055 SCV001135749 likely benign Lynch syndrome I 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000203982 SCV001152282 likely benign not provided 2018-09-01 criteria provided, single submitter clinical testing

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