ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.1024G>T (p.Val342Phe)

dbSNP: rs141899032
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001337042 SCV001530602 uncertain significance Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 2018-01-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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