ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.3568A>G (p.Lys1190Glu) (rs7197071)

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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 RCV000303459 SCV000338462 benign not specified 2015-12-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393906 SCV000399327 benign Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000303459 SCV000524303 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 RCV000393906 SCV000733531 benign Brittle cornea syndrome 1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000393906 SCV000745869 benign Brittle cornea syndrome 1 2016-01-15 no assertion criteria provided clinical testing

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