Submissions for variant NM_020751.3(COG6):c.28G>A (p.Ala10Thr)

dbSNP: rs3812882

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173505	SCV000224624	benign	not specified	2014-10-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000381290	SCV000384355	benign	COG6-congenital disorder of glycosylation	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000173505	SCV000517389	benign	not specified	2016-01-08	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000173505	SCV000538706	benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp	RCV001520760	SCV001729943	benign	COG6-congenital disorder of glycosylation; Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000381290	SCV001821574	benign	COG6-congenital disorder of glycosylation	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001582669	SCV001821575	benign	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	2021-07-22	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004708072	SCV005229689	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000173505	SCV001743645	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000173505	SCV001929045	benign	not specified		no assertion criteria provided	clinical testing