ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.2177_2178del (p.Ser726fs)

dbSNP: rs1703269824
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001264807 SCV001442998 pathogenic Mowat-Wilson syndrome 2020-06-01 criteria provided, single submitter clinical testing PVS1, PM2, PP4_Moderate

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