ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.1681C>T (p.Arg561Ter)

dbSNP: rs1472614573
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MyeliNeuroGene Lab, McGill University Health Center Research Institute RCV000845268 SCV000987273 pathogenic Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome criteria provided, single submitter research

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