ClinVar Miner

Submissions for variant NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg)

dbSNP: rs1064795099
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487237 SCV000570570 pathogenic not provided 2019-05-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32277047)
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000850413 SCV000992611 likely pathogenic Marfanoid habitus and intellectual disability criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV000487237 SCV001153794 uncertain significance not provided 2017-07-01 criteria provided, single submitter clinical testing

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