ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.593-11_593-7del (rs863224414)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198112 SCV000253488 likely benign Familial cancer of breast 2017-12-24 criteria provided, single submitter clinical testing
Counsyl RCV000198112 SCV000489651 likely benign Familial cancer of breast 2016-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000485140 SCV000567733 benign not specified 2015-08-20 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 RCV000579399 SCV000684666 likely benign Hereditary cancer-predisposing syndrome 2017-05-11 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585035 SCV000693078 likely benign not provided 2017-10-31 criteria provided, single submitter clinical testing

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