ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1230C>T (p.Cys410=) (rs773380144)

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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 RCV000574503 SCV000669302 likely benign Hereditary cancer-predisposing syndrome 2017-09-13 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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