ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.4512G>T (p.Leu1504=) (rs117995220)

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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 RCV000082269 SCV000114218 benign not specified 2013-10-02 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712901 SCV000843452 benign not provided 2018-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717562 SCV000848415 benign History of neurodevelopmental disorder 2017-05-25 criteria provided, single submitter clinical testing Structural Evidence;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Genetic Services Laboratory, University of Chicago RCV000082269 SCV000152454 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.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000601544 SCV000733569 benign Smith-Magenis syndrome no assertion criteria provided clinical testing

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