ClinVar Miner

Submissions for variant NM_001348800.3(ZBTB20):c.1811A>C (p.Lys604Thr)

dbSNP: rs483353069
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000190703 SCV000244144 likely pathogenic Inborn genetic diseases 2013-08-14 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000149434 SCV000746459 pathogenic Primrose syndrome 2020-05-03 criteria provided, single submitter clinical testing
Reparto di Fisiopatologia delle Malattie Genetiche, Dipartimento di Ematologia, Oncologia; Istituto Superiore di Sanità RCV000149434 SCV000172005 pathogenic Primrose syndrome no assertion criteria provided not provided Converted during submission to Pathogenic.

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