ClinVar Miner

Submissions for variant NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg)

gnomAD frequency: 0.00026  dbSNP: rs199830292
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000009405 SCV000267375 likely pathogenic Long QT syndrome 13 2016-03-18 criteria provided, single submitter reference population
Illumina Laboratory Services,Illumina RCV000312115 SCV000368951 likely benign Familial hyperaldosteronism type III 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000865749 SCV001006764 likely benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000009405 SCV000029623 pathogenic Long QT syndrome 13 2014-03-25 no assertion criteria provided literature only
GeneReviews RCV000193019 SCV000243881 pathogenic Andersen Tawil syndrome 2015-08-06 no assertion criteria provided literature only

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