ClinVar Miner

Submissions for variant NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu) (rs1555791268)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623695 SCV000742123 uncertain significance Inborn genetic diseases 2017-01-18 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000824836 SCV000965730 likely pathogenic Mental retardation, autosomal dominant 36 2016-01-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000824836 SCV001440102 likely pathogenic Mental retardation, autosomal dominant 36 2019-01-01 criteria provided, single submitter clinical testing
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000824836 SCV001499946 pathogenic Mental retardation, autosomal dominant 36 no assertion criteria provided clinical testing

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