ClinVar Miner

Submissions for variant NM_181303.2(NLGN3):c.1849C>T (p.Arg617Trp)

dbSNP: rs878853147
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV000224769 SCV000281737 likely pathogenic Intellectual disability 2014-07-25 criteria provided, single submitter clinical testing present in one affected cousin

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