ClinVar Miner

Submissions for variant NM_024876.4(COQ8B):c.1055C>G (p.Thr352Arg)

gnomAD frequency: 0.03290  dbSNP: rs36012476
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423472 SCV000517823 benign not specified 2016-01-25 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.
Invitae RCV000676539 SCV002424866 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294329 SCV002587549 likely benign Kidney disorder 2019-04-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676539 SCV000802324 likely benign not provided 2016-02-23 no assertion criteria provided clinical testing

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