ClinVar Miner

Submissions for variant NM_018292.5(QRSL1):c.381-47A>C

gnomAD frequency: 0.43311  dbSNP: rs9486434
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001616320 SCV001839157 benign not provided 2021-05-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001796610 SCV002033380 benign Combined oxidative phosphorylation deficiency 40 2021-11-07 criteria provided, single submitter clinical testing

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