ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712105 SCV000842525 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
GeneReviews RCV000020220 SCV000040561 benign Episodic ataxia type 1 2012-08-16 no assertion criteria provided curation Converted during submission to Benign.
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.
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 2016-06-14 criteria provided, single submitter clinical testing

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