ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.1771-6C>G

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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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268248 SCV001447039 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
GeneDx RCV001268248 SCV001770158 likely pathogenic not provided 2019-08-08 criteria provided, single submitter clinical testing Published functional studies suggest aberrant splicing (Azmanov et al., 2016); This variant is associated with the following publications: (PMID: 31932101, 31940116, 31438894, 30847471, 27029625, 27506977)
Institute of Human Genetics, Klinikum rechts der Isar RCV001254101 SCV001430027 pathogenic Hypomyelinating leukodystrophy 7 2020-03-17 no assertion criteria provided clinical testing
GeneReviews RCV001254101 SCV001760622 pathogenic Hypomyelinating leukodystrophy 7 2017-05-11 no assertion criteria provided literature only

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