ClinVar Miner

Submissions for variant NM_153603.4(COG7):c.850A>T (p.Ile284Phe)

gnomAD frequency: 0.00094  dbSNP: rs115605801
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082677 SCV000114719 uncertain significance not provided 2012-07-25 criteria provided, single submitter clinical testing
Invitae RCV001397902 SCV001599664 likely benign COG7 congenital disorder of glycosylation 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003964948 SCV004788810 likely benign COG7-related disorder 2022-03-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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