ClinVar Miner

Submissions for variant NM_032620.4(GTPBP3):c.198A>C (p.Thr66=)

gnomAD frequency: 0.73888  dbSNP: rs1864112
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442852 SCV000517582 benign not specified 2015-12-02 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.
Genome-Nilou Lab RCV001702371 SCV001934024 benign Combined oxidative phosphorylation defect type 23 2021-08-10 criteria provided, single submitter clinical testing
Invitae RCV002061668 SCV002432030 benign not provided 2024-02-01 criteria provided, single submitter clinical testing

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