ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.4530C>T (p.Pro1510=) (rs35686634)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082270 SCV000114219 benign not specified 2014-12-22 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082270 SCV000314718 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576515 SCV000677442 benign Smith-Magenis syndrome 2017-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715451 SCV000846280 benign History of neurodevelopmental disorder 2016-04-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082270 SCV000152455 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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