Submissions for variant NM_015386.3(COG4):c.646C>T (p.Leu216=)

gnomAD frequency: 0.38086  dbSNP: rs3762171

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081733	SCV000113664	benign	not specified	2013-01-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081733	SCV000312544	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000081733	SCV000517548	benign	not specified	2015-12-02	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.
Invitae	RCV001520815	SCV001730012	benign	COG4-congenital disorder of glycosylation	2024-01-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001520815	SCV001821567	benign	COG4-congenital disorder of glycosylation	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001582571	SCV001821568	benign	Microcephalic osteodysplastic dysplasia, Saul-Wilson type	2021-07-22	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081733	SCV000150774	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.