ClinVar Miner

Submissions for variant NM_000937.5(POLR2A):c.83C>G (p.Pro28Arg)

dbSNP: rs1388837601
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001263526 SCV001524993 uncertain significance Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 2020-04-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV001263526 SCV001250727 likely pathogenic Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 2020-05-08 no assertion criteria provided clinical testing

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