ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.1541_1548del (p.Pro514fs)

dbSNP: rs1703280501
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV001249623 SCV001423696 pathogenic Mowat-Wilson syndrome 2018-06-21 criteria provided, single submitter clinical testing [ACMG/AMP: PVS1, PS2, PM2] This alteration is a null variant in a gene where LOF is a known mechanism of disease [PVS1], is de novo in origin as it was not detected in the submitted parental specimens (identity confirmed) [PS2], is absent from or rarely observed in large-scale population databases [PM2].

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