ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2187C>T (p.Ala729=) (rs375610656)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410529 SCV000488634 likely benign Hereditary nonpolyposis colorectal cancer type 5 2016-05-10 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488079 SCV000575207 likely benign not provided 2016-10-01 criteria provided, single submitter clinical testing
Invitae RCV001085273 SCV000624732 likely benign Hereditary nonpolyposis colon cancer 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000606460 SCV000719118 likely benign not specified 2017-05-08 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 RCV001014699 SCV001175440 likely benign Hereditary cancer-predisposing syndrome 2015-10-22 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Color RCV001014699 SCV001358082 likely benign Hereditary cancer-predisposing syndrome 2020-02-13 criteria provided, single submitter clinical testing

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