ClinVar Miner

Submissions for variant NM_000744.6(CHRNA4):c.1209G>T (p.Pro403=) (rs2229959)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715239 SCV000846067 benign Seizures 2016-01-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576630 SCV000677245 benign Epilepsy, nocturnal frontal lobe, type 1 2017-05-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079310 SCV000111180 benign not specified 2017-06-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079310 SCV000150687 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.
PreventionGenetics RCV000079310 SCV000305462 benign not specified criteria provided, single submitter clinical testing

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