ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.3067+6A>T

dbSNP: rs143450927
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081667 SCV000113598 benign not specified 2013-12-17 criteria provided, single submitter clinical testing
GeneDx RCV000081667 SCV000169880 benign not specified 2012-05-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000147999 SCV000195496 likely benign Mowat-Wilson syndrome 2013-04-10 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Children's Mercy Hospital and Clinics RCV000081667 SCV000221259 benign not specified 2015-03-02 criteria provided, single submitter clinical testing This variant was interpreted as benign based on ACMG evidence categories BS1 BS2.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224615 SCV000281233 benign not provided 2014-12-09 criteria provided, single submitter clinical testing
Invitae RCV000147999 SCV000289999 benign Mowat-Wilson syndrome 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000081667 SCV001475087 benign not specified 2020-07-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000147999 SCV002045662 benign Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000081667 SCV000218436 benign not specified 2015-01-30 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000224615 SCV001798747 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000081667 SCV001930181 benign not specified no assertion criteria provided clinical testing

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