ClinVar Miner

Submissions for variant NM_015386.3(COG4):c.171+3G>A

gnomAD frequency: 0.00061  dbSNP: rs368602741
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000910716 SCV001055602 likely benign COG4-congenital disorder of glycosylation 2022-08-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950089 SCV004763735 likely benign COG4-related condition 2019-03-13 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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