ClinVar Miner

Submissions for variant NM_000937.5(POLR2A):c.4164T>G (p.Phe1388Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003388883 SCV004100755 uncertain significance Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 2023-10-16 criteria provided, single submitter clinical testing Criteria applied: PM2_SUP,PP2,PS2_MOD

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