ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1248T>C (p.Asn416=) (rs786201156)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162787 SCV000213265 likely benign Hereditary cancer-predisposing syndrome 2017-07-14 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
Invitae RCV000871400 SCV001013056 likely benign Hereditary nonpolyposis colorectal neoplasms 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000162787 SCV001348267 likely benign Hereditary cancer-predisposing syndrome 2019-02-12 criteria provided, single submitter clinical testing

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