ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=) (rs533485167)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000173059 SCV000224140 benign not specified 2018-03-27 criteria provided, single submitter clinical testing
Invitae RCV000230817 SCV000283408 benign Beckwith-Wiedemann syndrome 2020-12-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000173059 SCV000301912 likely benign not specified criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000173059 SCV000593970 likely benign not specified 2016-06-13 criteria provided, single submitter clinical testing
Human Genetics - Radboudumc,Radboudumc RCV001723744 SCV001956164 likely benign not provided no assertion criteria provided clinical testing

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