ClinVar Miner

Submissions for variant NM_003491.4(NAA10):c.319G>T (p.Val107Phe)

dbSNP: rs587780562
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000128608 SCV000154970 pathogenic Ogden syndrome 2014-06-10 no assertion criteria provided in vitro
OMIM RCV000128608 SCV000257347 pathogenic Ogden syndrome 2015-05-01 no assertion criteria provided literature only

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