ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.3772_3773del (p.Leu1258fs)

dbSNP: rs1564612961
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital RCV000754385 SCV000786634 likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2018-04-01 criteria provided, single submitter research

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