ClinVar Miner

Submissions for variant NM_005472.4(KCNE3):c.198T>C (p.Phe66=) (rs2270676)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250331 SCV000311088 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000245979 SCV000318005 benign Cardiovascular phenotype 2015-05-14 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000399032 SCV000374062 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000999778 SCV000884044 benign Brugada syndrome 6 2018-07-22 criteria provided, single submitter clinical testing
Invitae RCV000999778 SCV001000418 benign Brugada syndrome 6 2019-12-31 criteria provided, single submitter clinical testing

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