ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.502C>T (p.Gln168Ter)

dbSNP: rs1560609721
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680144 SCV000807589 pathogenic Mowat-Wilson syndrome 2017-09-01 criteria provided, single submitter clinical testing This nonsense variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory de novo in a 7-year-old female with microcephaly, epilepsy, global delays, dysmorphic features, feeding difficulties, dystonia, kyphosis, dysmetria.
Daryl Scott Lab, Baylor College of Medicine RCV000680144 SCV005871318 pathogenic Mowat-Wilson syndrome 2024-01-01 criteria provided, single submitter clinical testing PVS1, PS2

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