ClinVar Miner

Submissions for variant NM_007357.3(COG2):c.567C>T (p.Gly189=)

gnomAD frequency: 0.00855  dbSNP: rs77326385
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 RCV000960627 SCV001107630 benign Congenital disorder of glycosylation, type IIq 2025-01-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714162 SCV005284211 benign not provided criteria provided, single submitter not provided

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