ClinVar Miner

Submissions for variant NM_153603.4(COG7):c.1206G>A (p.Ala402=)

gnomAD frequency: 0.00008  dbSNP: rs777152433
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002066154 SCV002378320 likely benign COG7 congenital disorder of glycosylation 2024-08-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424481 SCV004141309 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing COG7: BP4, BP7

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