ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.78C>T (p.Thr26=) (rs876658717)

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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 RCV000220441 SCV000274341 likely benign Hereditary cancer-predisposing syndrome 2015-03-06 criteria provided, single submitter clinical testing
GeneDx RCV000426998 SCV000520434 likely benign not specified 2015-10-29 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 RCV000635983 SCV000757414 likely benign Familial cancer of breast 2017-11-16 criteria provided, single submitter clinical testing

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