ClinVar Miner

Submissions for variant NM_006348.5(COG5):c.539-17G>A

gnomAD frequency: 0.01278  dbSNP: rs150929025
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427757 SCV000518705 benign not specified 2016-03-01 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 RCV002062334 SCV002335915 benign COG5-congenital disorder of glycosylation 2025-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002062334 SCV002801117 likely benign COG5-congenital disorder of glycosylation 2022-01-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712805 SCV005271120 benign not provided criteria provided, single submitter not provided

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