ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.249A>G (p.Gln83=) (rs776271158)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213720 SCV000277700 likely benign Hereditary cancer-predisposing syndrome 2015-08-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign

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