ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.4727G>A (p.Arg1576His) (rs143935839)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500168 SCV000597378 uncertain significance not specified 2016-12-27 criteria provided, single submitter clinical testing
Invitae RCV000864618 SCV001005441 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
New York Genome Center RCV001255057 SCV001431148 uncertain significance Seizures 2020-01-24 no assertion criteria provided clinical testing

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