ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.717G>A (p.Glu239=) (rs1555921253)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566763 SCV000666358 likely benign Hereditary cancer-predisposing syndrome 2016-04-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Invitae RCV000635985 SCV000757416 likely benign Familial cancer of breast 2017-11-15 criteria provided, single submitter clinical testing

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