ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=) (rs1131824)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712119 SCV000842540 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117331 SCV000202880 benign not specified 2014-02-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117331 SCV000151512 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 RCV000398300 SCV000365134 likely benign Generalized epilepsy and paroxysmal dyskinesia 2016-06-14 criteria provided, single submitter clinical testing

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