ClinVar Miner

Submissions for variant NM_032620.4(GTPBP3):c.974+38G>A

gnomAD frequency: 0.62097  dbSNP: rs4808623
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001702337 SCV001934027 benign Combined oxidative phosphorylation defect type 23 2021-08-10 criteria provided, single submitter clinical testing
GeneDx RCV001713694 SCV001942961 benign not provided 2018-06-23 criteria provided, single submitter clinical testing

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