ClinVar Miner

Submissions for variant NM_006348.5(COG5):c.1750-3dup

dbSNP: rs746706902
Minimum review status: Collection method:
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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 RCV002220494 SCV002365142 benign COG5-congenital disorder of glycosylation 2025-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002220494 SCV002805191 benign COG5-congenital disorder of glycosylation 2021-08-16 criteria provided, single submitter clinical testing

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