ClinVar Miner

Submissions for variant NM_000217.3(KCNA1):c.684T>C (p.Cys228=) (rs1048500)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000390363 SCV000379409 benign Myokymia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288623 SCV000379410 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.
Athena Diagnostics Inc RCV000712105 SCV000842525 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Invitae RCV000288623 SCV001724019 benign Episodic ataxia type 1 2020-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000712105 SCV001945693 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117315 SCV000151496 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 RCV000117315 SCV001744540 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000117315 SCV001951941 benign not specified no assertion criteria provided clinical testing

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