ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.843A>T (p.Ser281=) (rs150197753)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232025 SCV000284190 likely benign not provided 2019-02-19 criteria provided, single submitter clinical testing
GeneDx RCV000422592 SCV000513655 likely benign not specified 2017-07-21 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.
Ambry Genetics RCV000573521 SCV000662238 likely benign Hereditary cancer-predisposing syndrome 2015-04-16 criteria provided, single submitter clinical testing
Color RCV000573521 SCV000685135 likely benign Hereditary cancer-predisposing syndrome 2015-06-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000422592 SCV000919700 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Mendelics RCV000986654 SCV001135709 likely benign Lynch syndrome I 2019-05-28 criteria provided, single submitter clinical testing

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