ClinVar Miner

Submissions for variant NM_000217.3(KCNA1):c.1440T>A (p.Thr480=) (rs4766309)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000117314 SCV000227063 benign not specified 2015-09-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297286 SCV000379419 benign Myokymia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000606572 SCV000379420 benign Episodic ataxia type 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000606572 SCV000744721 benign Episodic ataxia type 1 2015-09-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712102 SCV000842522 benign not provided 2018-05-06 criteria provided, single submitter clinical testing
Invitae RCV000606572 SCV001724021 benign Episodic ataxia type 1 2020-12-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117314 SCV000151495 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 RCV000606572 SCV000733175 benign Episodic ataxia type 1 no assertion criteria provided clinical testing

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