ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.639T>C (p.Asp213=) (rs1044393)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000116722 SCV000305471 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000116722 SCV000331357 benign not specified 2016-03-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576673 SCV000677251 benign not provided 2017-05-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715308 SCV000846136 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 RCV001520746 SCV001729925 benign Autosomal dominant nocturnal frontal lobe epilepsy 2020-12-08 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001578894 SCV001806251 benign Epilepsy, nocturnal frontal lobe, type 1 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV000576673 SCV001890523 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116722 SCV000150696 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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