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

Total submissions: 5

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