ClinVar Miner

Submissions for variant NM_024876.4(COQ8B):c.232C>T (p.Arg78Cys)

gnomAD frequency: 0.02355  dbSNP: rs11538384
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427417 SCV000518519 benign not specified 2016-02-08 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 RCV000676545 SCV002337225 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294330 SCV002587211 likely benign Kidney disorder 2019-11-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676545 SCV005307323 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676545 SCV000802330 likely benign not provided 2016-02-19 no assertion criteria provided clinical testing

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