ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.1958_1959del (p.Val653fs)

dbSNP: rs2032172594
Minimum review status: Collection method:
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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 RCV001257618 SCV001434428 likely pathogenic Intellectual disability 2020-04-20 criteria provided, single submitter clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV002226759 SCV002505870 likely pathogenic Smith-Magenis syndrome 2021-08-01 criteria provided, single submitter clinical testing

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