ClinVar Miner

Submissions for variant NM_001348800.3(ZBTB20):c.1802C>T (p.Thr601Ile)

dbSNP: rs483353067
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004721270 SCV005327197 pathogenic not provided 2024-03-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25017102, 32266967)
Reparto di Fisiopatologia delle Malattie Genetiche, Dipartimento di Ematologia, Oncologia; Istituto Superiore di Sanità RCV000149433 SCV000172003 pathogenic Primrose syndrome no assertion criteria provided not provided Converted during submission to Pathogenic.

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