Submissions for variant NM_032382.5(COG8):c.1589C>T (p.Pro530Leu)

gnomAD frequency: 0.00951  dbSNP: rs114861924

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224785	SCV000280716	benign	not provided	2015-06-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000426442	SCV000521785	benign	not specified	2016-01-27	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088305	SCV000645973	benign	COG8-congenital disorder of glycosylation	2024-12-08	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001088305	SCV001274896	benign	COG8-congenital disorder of glycosylation	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Fulgent Genetics, Fulgent Genetics	RCV001088305	SCV002802274	likely benign	COG8-congenital disorder of glycosylation	2021-08-26	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000224785	SCV005254226	benign	not provided		criteria provided, single submitter	not provided