ClinVar Miner

Submissions for variant NM_032620.4(GTPBP3):c.974+37G>C

gnomAD frequency: 0.24676  dbSNP: rs11669718
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001639706 SCV001848545 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001703140 SCV001934026 benign Combined oxidative phosphorylation defect type 23 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001639706 SCV005311617 benign not provided criteria provided, single submitter not provided

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