ClinVar Miner

Submissions for variant NM_013337.4(TIMM22):c.508+45A>G

gnomAD frequency: 0.22287  dbSNP: rs12941159
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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 RCV001838878 SCV002098451 benign Combined oxidative phosphorylation deficiency 43 2021-09-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710387 SCV005249221 benign not provided criteria provided, single submitter not provided

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