ClinVar Miner

Submissions for variant NM_007208.4(MRPL3):c.950C>G (p.Pro317Arg)

gnomAD frequency: 0.00001  dbSNP: rs387906962
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001546426 SCV001765942 likely pathogenic not provided 2019-12-27 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 27815843, 21786366)
OMIM RCV000023618 SCV000044909 pathogenic Combined oxidative phosphorylation defect type 9 2011-11-01 no assertion criteria provided literature only

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