ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.1895G>T (p.Cys632Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003990787 SCV004807754 uncertain significance Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome 2024-03-29 criteria provided, single submitter clinical testing

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