ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.3384C>A (p.Tyr1128Ter)

dbSNP: rs2019335082
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV001249503 SCV001423493 pathogenic Intellectual disability 2019-12-01 no assertion criteria provided clinical testing

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