ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.1051C>T (p.Arg351Ter) (rs769791060)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MyeliNeuroGene Lab,McGill University Health Center Research Institute RCV000845269 SCV000987274 pathogenic Hypomyelinating leukodystrophy 7 criteria provided, single submitter research
Institute of Human Genetics, Klinikum rechts der Isar RCV000845269 SCV001150223 pathogenic Hypomyelinating leukodystrophy 7 2018-11-05 no assertion criteria provided clinical testing

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