ClinVar Miner

Submissions for variant NM_032620.4(GTPBP3):c.749T>C (p.Val250Ala)

gnomAD frequency: 0.73925  dbSNP: rs3810206
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436556 SCV000517584 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 RCV001702641 SCV001934025 benign Combined oxidative phosphorylation defect type 23 2021-08-10 criteria provided, single submitter clinical testing
Invitae RCV002061670 SCV002417181 benign not provided 2024-02-01 criteria provided, single submitter clinical testing

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