ClinVar Miner

Submissions for variant NM_018714.3(COG1):c.2231A>G (p.Tyr744Cys)

gnomAD frequency: 0.00447  dbSNP: rs7208207
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000871005 SCV001012595 benign COG1 congenital disorder of glycosylation 2025-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424409 SCV004144123 benign not provided 2023-05-01 criteria provided, single submitter clinical testing COG1: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003424409 SCV005249435 benign not provided criteria provided, single submitter not provided

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