ClinVar Miner

Submissions for variant NM_018714.3(COG1):c.2383-17T>C

gnomAD frequency: 0.91491  dbSNP: rs3829571
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081965 SCV000113900 benign not specified 2012-07-25 criteria provided, single submitter clinical testing
Invitae RCV001520821 SCV001730022 benign COG1 congenital disorder of glycosylation 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001520821 SCV001821561 benign COG1 congenital disorder of glycosylation 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001711581 SCV001944172 benign not provided 2018-07-09 criteria provided, single submitter clinical testing

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