ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1197T>C (p.Val399=) (rs1057520268)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436991 SCV000512595 likely benign not specified 2017-05-16 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.
Invitae RCV000467751 SCV000561024 likely benign not provided 2018-12-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573352 SCV000669233 likely benign Hereditary cancer-predisposing syndrome 2015-10-11 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Color RCV000573352 SCV000910402 likely benign Hereditary cancer-predisposing syndrome 2017-12-19 criteria provided, single submitter clinical testing

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