ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.2928C>G (p.Leu976=) (rs2839228)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000605112 SCV000745094 benign Microcephalic osteodysplastic primordial dwarfism type 2 2017-06-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000605112 SCV000734105 benign Microcephalic osteodysplastic primordial dwarfism type 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000147104 SCV000342746 benign not specified 2016-06-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000147104 SCV000194464 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335049 SCV000436976 benign Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 criteria provided, single submitter clinical testing

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