ClinVar Miner

Submissions for variant NM_013337.4(TIMM22):c.97G>C (p.Val33Leu)

gnomAD frequency: 0.00440  dbSNP: rs149879547
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV001089596 SCV002519869 uncertain significance Combined oxidative phosphorylation deficiency 43 2022-10-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003413903 SCV004143680 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing TIMM22: PM3, PS3:Moderate, PM2:Supporting, BS2
OMIM RCV001089596 SCV001244933 pathogenic Combined oxidative phosphorylation deficiency 43 2020-04-24 no assertion criteria provided literature only

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