ClinVar Miner

Submissions for variant NM_033517.1(SHANK3):c.3637dup (p.His1213fs)

dbSNP: rs1555910162
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000449604 SCV000537723 pathogenic Psychotic disorder; Mutism; Moderate global developmental delay 2014-09-22 criteria provided, single submitter clinical testing
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000760213 SCV000890043 pathogenic Phelan-McDermid syndrome; Schizophrenia 15 2016-05-18 criteria provided, single submitter clinical testing

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