ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.457C>G (p.Pro153Ala) (rs532620482)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625422 SCV000745321 benign Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 2017-06-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724021 SCV000224315 uncertain significance not provided 2014-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000173220 SCV000714231 likely benign not specified 2017-07-13 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.
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625422 SCV000745861 likely benign Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 2016-01-15 no assertion criteria provided clinical testing

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