ClinVar Miner

Submissions for variant NM_000937.5(POLR2A):c.3275C>T (p.Ala1092Val)

dbSNP: rs2070664416
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV001263529 SCV001250730 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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