ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.3337-1G>A

dbSNP: rs1041175828
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001784365 SCV002024717 likely pathogenic not provided 2021-08-16 criteria provided, single submitter clinical testing
OMIM RCV000755670 SCV000883072 pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2024-04-02 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001291255 SCV001479680 likely pathogenic Wiedemann-Rautenstrauch-like progeroid syndrome no assertion criteria provided research

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