ClinVar Miner

Submissions for variant NM_153603.4(COG7):c.2013G>A (p.Leu671=)

gnomAD frequency: 0.00012  dbSNP: rs370447404
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425895 SCV000522303 likely benign not specified 2016-02-08 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.
Eurofins Ntd Llc (ga) RCV000726767 SCV000702915 uncertain significance not provided 2016-12-02 criteria provided, single submitter clinical testing
Invitae RCV001087142 SCV001019367 likely benign COG7 congenital disorder of glycosylation 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000726767 SCV004141307 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing COG7: BP4, BP7

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