ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu)

gnomAD frequency: 0.00001  dbSNP: rs267608670
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000024139 SCV000045430 pathogenic Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 2011-09-09 no assertion criteria provided literature only
GeneReviews RCV000024139 SCV000055885 pathogenic Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 2017-05-11 no assertion criteria provided literature only

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