ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.213A>G (p.Leu71=) (rs56338023)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000192611 SCV000248736 benign not specified 2016-08-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716842 SCV000847686 benign History of neurodevelopmental disorder 2016-08-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000192611 SCV000858979 benign not specified 2018-01-19 criteria provided, single submitter clinical testing
Invitae RCV000865483 SCV001006460 benign Coffin-Lowry syndrome; Mental retardation, X-linked 19 2019-12-31 criteria provided, single submitter clinical testing

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