ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.573delinsTACCCC (p.Gln191fs)

dbSNP: rs2032102818
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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 RCV001257619 SCV001434429 pathogenic Intellectual disability 2020-04-20 criteria provided, single submitter clinical testing

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