ClinVar Miner

Submissions for variant NM_153603.4(COG7):c.811-14C>G

gnomAD frequency: 0.00016  dbSNP: rs545654100
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608095 SCV000715118 likely benign not specified 2017-01-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002062853 SCV002401889 benign COG7 congenital disorder of glycosylation 2025-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002062853 SCV002805298 likely benign COG7 congenital disorder of glycosylation 2022-04-24 criteria provided, single submitter clinical testing

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