ClinVar Miner

Submissions for variant NM_020751.3(COG6):c.1963C>A (p.Leu655Ile)

gnomAD frequency: 0.00750  dbSNP: rs114044193
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441964 SCV000523931 benign not specified 2016-05-03 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 RCV000864223 SCV001004996 benign COG6-congenital disorder of glycosylation; Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 2025-01-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707243 SCV005229723 benign not provided criteria provided, single submitter not provided

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