ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.8020T>C (p.Leu2674=) (rs187106999)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716357 SCV000847197 likely benign Seizures 2016-06-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,Sub-population frequency in support of benign classification (not ava blue, manual h-w)
Invitae RCV000474846 SCV000563168 benign not specified 2017-01-05 criteria provided, single submitter clinical testing

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