ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=) (rs1044396)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079313 SCV000111183 benign not specified 2016-04-12 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079313 SCV000305465 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576445 SCV000677247 benign not provided 2017-04-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715285 SCV000846113 benign Seizures 2016-01-08 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001517150 SCV001725588 benign Autosomal dominant nocturnal frontal lobe epilepsy 2020-12-03 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001578892 SCV001806247 benign Epilepsy, nocturnal frontal lobe, type 1 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV000576445 SCV001869805 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28877969)
OMIM RCV000019053 SCV000039340 protective Nicotine addiction, protection against 2004-07-01 no assertion criteria provided literature only
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.

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