ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.288A>G (p.Leu96=) (rs767758092)

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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 RCV000163966 SCV000214565 likely benign Hereditary cancer-predisposing syndrome 2015-04-23 criteria provided, single submitter clinical testing
GeneDx RCV000432658 SCV000521757 likely benign not specified 2017-09-28 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.
Invitae RCV000474341 SCV000561022 likely benign Familial cancer of breast 2017-08-08 criteria provided, single submitter clinical testing
Color RCV000163966 SCV000911299 likely benign Hereditary cancer-predisposing syndrome 2018-02-16 criteria provided, single submitter clinical testing

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