ClinVar Miner

Submissions for variant NM_000891.2(KCNJ2):c.1200G>A (p.Thr400=) (rs201253055)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001089424 SCV000645182 likely benign Andersen Tawil syndrome; Short QT syndrome 3 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619940 SCV000735610 likely benign Cardiovascular phenotype 2016-11-09 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV000552466 SCV001144391 benign not provided 2018-10-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000623 SCV001157625 likely benign not specified 2019-05-01 criteria provided, single submitter clinical testing

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