ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.1542C>A (p.Ser514=) (rs2249057)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000616137 SCV000745090 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 RCV000616137 SCV000734101 benign Microcephalic osteodysplastic primordial dwarfism type 2 no assertion criteria provided clinical testing
Genetic Services Laboratory, University of Chicago RCV000147090 SCV000194450 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402281 SCV000436957 benign Microcephalic Osteodysplastic Primordial Dwarfism 2016-06-14 criteria provided, single submitter clinical testing

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