ClinVar Miner

Submissions for variant NM_182943.3(PLOD2):c.338+4G>A (rs4681297)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000247802 SCV000316834 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000247802 SCV000332625 benign not specified 2015-06-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299759 SCV000441492 benign Bruck Syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000247802 SCV000728734 benign not specified 2017-06-09 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 RCV000608593 SCV000734246 benign Bruck syndrome 2 no assertion criteria provided clinical testing

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