ClinVar Miner

Submissions for variant NM_001372044.2(SHANK3):c.3574C>T (p.Arg1192Ter)

dbSNP: rs387906932
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV001257625 SCV001434435 pathogenic Intellectual disability 2020-04-20 criteria provided, single submitter clinical testing
OMIM RCV000023519 SCV000044810 pathogenic Schizophrenia 15 2010-04-27 no assertion criteria provided literature only

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