ClinVar Miner

Submissions for variant NM_001281492.1(MSH6):c.3693_*3GACT[3] (p.Ter1231=) (rs765313977)

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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 RCV000215479 SCV000273501 uncertain significance Hereditary cancer-predisposing syndrome 2016-08-09 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
GeneDx RCV000218434 SCV000279513 likely benign not specified 2017-01-10 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.
Counsyl RCV000410822 SCV000489264 uncertain significance Hereditary nonpolyposis colorectal cancer type 5 2016-09-12 criteria provided, single submitter clinical testing
Invitae RCV000475931 SCV000551276 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2017-11-08 criteria provided, single submitter clinical testing
Color RCV000215479 SCV000903270 likely benign Hereditary cancer-predisposing syndrome 2016-05-23 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001171951 SCV001334863 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing

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