ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.1098A>C (p.Arg366Ser) (rs11640794)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173224 SCV000224319 benign not specified 2014-07-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402834 SCV000399267 benign Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000173224 SCV000524301 benign not specified 2016-09-29 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.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000402834 SCV000733525 benign Brittle cornea syndrome 1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000402834 SCV000745863 benign Brittle cornea syndrome 1 2016-01-15 no assertion criteria provided clinical testing

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