ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.1653del (p.Ser552fs) (rs786204820)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000169721 SCV000807293 pathogenic Mowat-Wilson syndrome 2017-09-01 criteria provided, single submitter clinical testing This frameshift variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory de novo in a 2-year-old male with global delays, hypotonia, epilepsy, dysmorphisms, failure to thrive, café-au-lait spots, hypospadias, strabismus, vision impairment, heterotopic gray matter.
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics RCV000169721 SCV000221262 pathogenic Mowat-Wilson syndrome 2015-03-02 no assertion criteria provided clinical testing

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