ClinVar Miner

Submissions for variant NM_024818.5(UBA5):c.215G>A (p.Arg72His) (rs150313260)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000998136 SCV001154064 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV001249673 SCV001423624 likely pathogenic Epileptic encephalopathy, early infantile, 44 2017-05-29 criteria provided, single submitter clinical testing [ACMG/AMP: PM1, PM2, PM3, PP2] This alteration is located in a mutational hotspot and/or critical and well-established functional domain [PM1], is absent from or rarely observed in large-scale population databases [PM2], is detected in trans with a known pathogenic variant [PM3], is a missense variant in a gene in which missense variants are a common mechanism of disease [PP2].

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