ClinVar Miner

Submissions for variant NM_003366.4(UQCRC2):c.548G>A (p.Arg183Gln)

gnomAD frequency: 0.03828  dbSNP: rs4850
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428225 SCV000518797 benign not specified 2016-02-12 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 RCV000676822 SCV002405245 benign not provided 2025-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244881 SCV002514148 benign Mitochondrial complex III deficiency nuclear type 5 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676822 SCV005293124 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676822 SCV000802632 likely benign not provided 2016-02-23 no assertion criteria provided clinical testing

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