ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.573_578GGCCCC[5] (p.186_187AP[11]) (rs759134767)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081475 SCV000283423 benign Beckwith-Wiedemann syndrome 2019-12-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000501668 SCV000593971 likely benign not specified 2016-09-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727116 SCV000705852 uncertain significance not provided 2017-03-09 criteria provided, single submitter clinical testing

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