ClinVar Miner

Submissions for variant NM_020442.6(VARS2):c.511C>T (p.Arg171Trp)

gnomAD frequency: 0.00011  dbSNP: rs139515727
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000578261 SCV000680429 likely pathogenic Combined oxidative phosphorylation defect type 20 2017-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622841 SCV000742679 likely pathogenic Inborn genetic diseases 2017-08-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003431132 SCV004156087 uncertain significance not provided 2023-01-01 criteria provided, single submitter clinical testing VARS2: PM2, PM3
OMIM RCV000578261 SCV001372472 pathogenic Combined oxidative phosphorylation defect type 20 2020-07-13 no assertion criteria provided literature only

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