ClinVar Miner

Submissions for variant NM_032382.5(COG8):c.1785C>T (p.Cys595=)

gnomAD frequency: 0.00005  dbSNP: rs761610722
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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
GeneDx RCV000841312 SCV000983273 likely benign not provided 2018-04-12 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 RCV002067531 SCV002399286 likely benign COG8-congenital disorder of glycosylation 2023-10-03 criteria provided, single submitter clinical testing

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