ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.2550+5G>T (rs41270349)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000252157 SCV000312488 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000252157 SCV000563157 benign not specified 2017-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716317 SCV000847157 benign Seizures 2016-04-23 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

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