ClinVar Miner

Submissions for variant NM_000217.3(KCNA1):c.804G>C (p.Thr268=) (rs2227910)

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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 RCV000712106 SCV000842526 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
GeneReviews RCV000020222 SCV000040563 benign Episodic ataxia type 1 2012-08-16 no assertion criteria provided curation Converted during submission to Benign.
Genetic Services Laboratory, University of Chicago RCV000117316 SCV000151497 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 RCV000343851 SCV000379411 benign Episodic ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391589 SCV000379412 benign Myokymia 2016-06-14 criteria provided, single submitter clinical testing

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