ClinVar Miner

Submissions for variant NM_032609.3(COX4I2):c.412G>A (p.Glu138Lys) (rs119455950)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000284879 SCV000339074 uncertain significance not provided 2016-02-02 criteria provided, single submitter clinical testing
OMIM RCV000002774 SCV000022932 pathogenic Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 2009-03-01 no assertion criteria provided literature only

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