ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1563G>A (p.Arg521=) (rs761278013)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163193 SCV000213714 likely benign Hereditary cancer-predisposing syndrome 2016-05-21 criteria provided, single submitter clinical testing
Invitae RCV000197690 SCV000253482 likely benign Familial cancer of breast 2016-05-22 criteria provided, single submitter clinical testing
GeneDx RCV000441069 SCV000523507 likely benign not specified 2016-11-16 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.
Color RCV000163193 SCV000684608 likely benign Hereditary cancer-predisposing syndrome 2016-12-13 criteria provided, single submitter clinical testing

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