ClinVar Miner

Submissions for variant NM_000525.3(KCNJ11):c.678C>T (p.Pro226=) (rs74162102)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724762 SCV000224242 uncertain significance not provided 2015-04-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000173150 SCV000595315 likely benign not specified 2015-12-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000173150 SCV000613865 likely benign not specified 2017-06-26 criteria provided, single submitter clinical testing
Invitae RCV000724762 SCV001065378 likely benign not provided 2020-12-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275134 SCV001459965 likely benign Permanent neonatal diabetes mellitus 2020-09-16 no assertion criteria provided clinical testing

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