ClinVar Miner

Submissions for variant NM_000744.6(CHRNA4):c.1629C>T (p.Ser543=) (rs1044396)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715285 SCV000846113 benign Seizures 2016-01-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576445 SCV000677247 benign not provided 2017-04-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079313 SCV000111183 benign not specified 2016-04-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079313 SCV000150691 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.
OMIM RCV000019053 SCV000039340 protective Nicotine addiction, protection against 2004-07-01 no assertion criteria provided literature only
PreventionGenetics RCV000079313 SCV000305465 benign not specified criteria provided, single submitter clinical testing

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