ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) (rs139432601)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147126 SCV000194486 likely benign not specified 2015-05-13 criteria provided, single submitter clinical testing
GeneDx RCV000147126 SCV000514057 benign not specified 2017-02-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000147126 SCV000707530 likely benign not specified 2017-04-13 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000605004 SCV000745097 likely benign Microcephalic osteodysplastic primordial dwarfism type 2 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000605004 SCV000734108 likely benign Microcephalic osteodysplastic primordial dwarfism type 2 no assertion criteria provided clinical testing

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