ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.8177C>G (p.Thr2726Ser) (rs145882968)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459918 SCV000553351 likely benign not provided 2020-11-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718389 SCV000849251 benign Seizures 2017-03-29 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252126 SCV001427876 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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