ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1590C>T (p.Ala530=) (rs786201796)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164268 SCV000214893 likely benign Hereditary cancer-predisposing syndrome 2015-01-21 criteria provided, single submitter clinical testing
Invitae RCV000859093 SCV000289673 likely benign not provided 2018-12-08 criteria provided, single submitter clinical testing
Color RCV000164268 SCV000684613 likely benign Hereditary cancer-predisposing syndrome 2015-10-30 criteria provided, single submitter clinical testing
GeneDx RCV000605427 SCV000714640 likely benign not specified 2017-06-22 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.
Counsyl RCV000228877 SCV000786067 likely benign Familial cancer of breast 2018-02-15 criteria provided, single submitter clinical testing

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