ClinVar Miner

Submissions for variant NM_032305.3(POLR3GL):c.326-1G>A

gnomAD frequency: 0.00001  dbSNP: rs1553763618
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000766135 SCV000882437 likely pathogenic Short stature; Abnormal facial shape; Oligodontia; Hyperostosis 2019-01-23 no assertion criteria provided clinical testing
OMIM RCV001328377 SCV001519498 pathogenic Short stature, oligodontia, dysmorphic facies, and motor delay 2021-03-17 no assertion criteria provided literature only

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