ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.418C>T (p.Arg140Ter)

gnomAD frequency: 0.00001  dbSNP: rs267608678
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268853 SCV001448059 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
OMIM RCV000024143 SCV000045434 pathogenic Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome 2011-09-09 no assertion criteria provided literature only
GeneReviews RCV000024143 SCV000055890 not provided Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome no assertion provided literature only

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