ClinVar Miner

Submissions for variant NM_002437.5(MPV17):c.20A>G (p.Tyr7Cys)

gnomAD frequency: 0.00003  dbSNP: rs367838807
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199973 SCV000251739 uncertain significance not provided 2019-08-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; 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
Natera, Inc. RCV003227469 SCV002076545 uncertain significance Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) 2020-08-15 no assertion criteria provided clinical testing

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