ClinVar Miner

Submissions for variant NM_001372044.2(SHANK3):c.2990del (p.Pro997fs)

dbSNP: rs2083275928
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003127737 SCV003804110 pathogenic Autism spectrum disorder criteria provided, single submitter clinical testing
Diagnostic Laboratory, Strasbourg University Hospital RCV001257674 SCV001434485 pathogenic Intellectual disability 2020-04-20 criteria provided, single submitter clinical testing

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