ClinVar Miner

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

gnomAD frequency: 0.00951  dbSNP: rs114861924
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Total submissions: 6
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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

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