ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3759A>T (p.Val1253=) (rs1553333115)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545812 SCV000624911 likely benign Hereditary nonpolyposis colorectal neoplasms 2017-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565436 SCV000673985 likely benign Hereditary cancer-predisposing syndrome 2017-09-06 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Color RCV000565436 SCV000690395 likely benign Hereditary cancer-predisposing syndrome 2017-08-14 criteria provided, single submitter clinical testing
GeneDx RCV000606068 SCV000713972 likely benign not specified 2017-08-11 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.

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