ClinVar Miner

Submissions for variant NM_153603.4(COG7):c.567T>C (p.Ser189=)

gnomAD frequency: 0.00101  dbSNP: rs115543944
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841911 SCV000983902 likely benign not provided 2018-04-27 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 RCV001086962 SCV001014267 likely benign COG7 congenital disorder of glycosylation 2024-12-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001086962 SCV002812937 likely benign COG7 congenital disorder of glycosylation 2022-01-24 criteria provided, single submitter clinical testing

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