ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.3113T>C (p.Val1038Ala) (rs6518289)

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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 RCV000612303 SCV000745095 benign Microcephalic osteodysplastic primordial dwarfism type 2 2017-05-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000612303 SCV000734106 benign Microcephalic osteodysplastic primordial dwarfism type 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000147106 SCV000331326 benign not specified 2016-06-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000147106 SCV000194466 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000399320 SCV000436977 benign Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 criteria provided, single submitter clinical testing

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