ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.2955C>T (p.Cys985=) (rs151189395)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658507 SCV000780275 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719352 SCV000850218 likely benign Seizures 2017-05-31 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000658507 SCV001002098 benign not provided 2020-11-14 criteria provided, single submitter clinical testing
GeneDx RCV000658507 SCV001773990 likely benign not provided 2021-05-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000658507 SCV001932170 likely benign not provided no assertion criteria provided clinical testing

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