ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1494T>C (p.Leu498=) (rs531931623)

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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 RCV000164612 SCV000215275 likely benign Hereditary cancer-predisposing syndrome 2014-06-18 criteria provided, single submitter clinical testing
Invitae RCV000230884 SCV000289665 likely benign Familial cancer of breast 2017-06-22 criteria provided, single submitter clinical testing
Color RCV000164612 SCV000684601 likely benign Hereditary cancer-predisposing syndrome 2017-06-08 criteria provided, single submitter clinical testing

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