ClinVar Miner

Submissions for variant NM_032620.4(GTPBP3):c.664+18T>G

gnomAD frequency: 0.00001  dbSNP: rs369523370
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001570859 SCV001795223 likely benign not provided 2019-07-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001570859 SCV002386219 likely benign not provided 2023-12-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003132519 SCV003810603 uncertain significance Combined oxidative phosphorylation defect type 23 2019-03-27 criteria provided, single submitter clinical testing

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