ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.4343G>A (p.Arg1448His)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718064 SCV000848925 uncertain significance Seizures 2017-02-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000714621 SCV000845333 uncertain significance Epileptic encephalopathy, early infantile, 1 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000714622 SCV000845334 uncertain significance Early infantile epileptic encephalopathy 18 2018-08-07 criteria provided, single submitter clinical testing

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