ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1749G>A (p.Ala583=) (rs17038714)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000117359 SCV000226672 benign not specified 2014-09-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000117359 SCV000313661 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000715266 SCV000846094 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 RCV001513765 SCV001721440 benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2020-12-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117359 SCV000151542 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 RCV000117359 SCV001742259 benign not specified no assertion criteria provided clinical testing

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