ClinVar Miner

Submissions for variant NM_004321.7(KIF1A):c.643A>C (p.Ser215Arg) (rs672601367)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000149479 SCV000700154 pathogenic Intellectual disability, autosomal dominant 9 2017-03-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090762 SCV001246471 pathogenic not provided 2019-09-01 criteria provided, single submitter clinical testing
CHU Sainte-Justine Research Center,University of Montreal RCV000149479 SCV000196124 likely pathogenic Intellectual disability, autosomal dominant 9 2014-01-01 no assertion criteria provided clinical testing
OMIM RCV000149479 SCV000245995 pathogenic Intellectual disability, autosomal dominant 9 2014-09-29 no assertion criteria provided literature only

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