ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1332_1354del (p.Ser445_Glu446insTer)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001255328 SCV001431714 likely pathogenic Intellectual disability 2020-08-03 criteria provided, single submitter clinical testing The variant c.1332_1354del, p.(Glu446*) was identified in an individual with neurodevelopmental disorder (NDD) and classified as Likely pathogenic according to ACMG guidelines. Inheritance for this variant was unknown.The variants does not (fully) explain the NDD in this individual
Institute of Human Genetics, University of Leipzig Medical Center RCV001262402 SCV001440255 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 10 2019-01-01 criteria provided, single submitter clinical testing

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