ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.5535T>G (p.Ser1845Arg) (rs114759137)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716177 SCV000847014 benign Seizures 2016-03-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000713750 SCV000844379 benign not provided 2018-03-05 criteria provided, single submitter clinical testing
Invitae RCV000252770 SCV000563147 benign not specified 2016-11-30 criteria provided, single submitter clinical testing
PreventionGenetics RCV000252770 SCV000312494 benign not specified criteria provided, single submitter clinical testing

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