ClinVar Miner

Submissions for variant NM_015386.3(COG4):c.2310C>G (p.Arg770=)

dbSNP: rs533161794
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175467 SCV000226949 uncertain significance not provided 2014-07-17 criteria provided, single submitter clinical testing
Invitae RCV001078970 SCV000677047 benign COG4-congenital disorder of glycosylation 2022-07-12 criteria provided, single submitter clinical testing

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