ClinVar Miner

Submissions for variant NM_004982.4(KCNJ8):c.793T>C (p.Leu265=) (rs16924297)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204491 SCV000262093 benign Brugada syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621796 SCV000735302 benign Cardiovascular phenotype 2016-01-28 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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625488 SCV000745560 benign SUDDEN INFANT DEATH SYNDROME 2017-06-28 criteria provided, single submitter clinical testing

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