ClinVar Miner

Submissions for variant NM_001348800.3(ZBTB20):c.1805G>C (p.Gly602Ala)

dbSNP: rs483353068
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Reparto di Fisiopatologia delle Malattie Genetiche, Dipartimento di Ematologia, Oncologia; Istituto Superiore di Sanità RCV000133614 SCV000172004 pathogenic Primrose syndrome no assertion criteria provided not provided Converted during submission to Pathogenic.
OMIM RCV000133614 SCV000188672 pathogenic Primrose syndrome 2014-08-01 no assertion criteria provided literature only

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