ClinVar Miner

Submissions for variant NM_007357.3(COG2):c.264T>G (p.Leu88=)

gnomAD frequency: 0.03286  dbSNP: rs16852160
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000831388 SCV000973135 benign not provided 2018-06-14 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 RCV001510159 SCV001717122 benign Congenital disorder of glycosylation, type IIq 2025-01-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000831388 SCV005284210 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003928301 SCV004741635 benign COG2-related disorder 2019-07-16 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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