ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.2988+18C>T

dbSNP: rs369684554
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197958 SCV001368743 uncertain significance Neonatal pseudo-hydrocephalic progeroid syndrome 2019-01-22 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV002071850 SCV002457997 likely benign not provided 2022-12-31 criteria provided, single submitter clinical testing

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