ClinVar Miner

Submissions for variant NM_015386.3(COG4):c.2251G>A (p.Asp751Asn)

gnomAD frequency: 0.00009  dbSNP: rs200083914
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000870990 SCV001012575 likely benign COG4-congenital disorder of glycosylation 2023-10-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV000870990 SCV001522419 uncertain significance COG4-congenital disorder of glycosylation 2019-01-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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