ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.1615A>T (p.Ser539Cys) (rs189476639)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000266161 SCV000399276 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487545 SCV000575065 likely benign not provided 2019-12-01 criteria provided, single submitter clinical testing
GeneDx RCV000600583 SCV000730846 likely benign not specified 2017-09-15 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000487545 SCV000855614 uncertain significance not provided 2017-07-19 criteria provided, single submitter clinical testing

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