ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.5254G>A (p.Gly1752Arg) (rs755572135)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194060 SCV000248670 likely benign not specified 2015-02-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000194060 SCV000335747 likely benign not specified 2016-01-28 criteria provided, single submitter clinical testing
University of Arizona Genetics Core,University of Arizona RCV000239360 SCV000196150 pathogenic Deafness, autosomal recessive 9 no assertion criteria provided research

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