ClinVar Miner

Submissions for variant NM_001378418.1(TCF20):c.3803_3804del (p.Arg1268fs)

dbSNP: rs1569146542
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sydney Children's Hospital, SCHN RCV000770764 SCV000845777 likely pathogenic TCF20-related disorder 2018-11-06 criteria provided, single submitter clinical testing Not present in unaffected mother and two unaffected brothers. No DNA available from unaffected father. Presumed germline mosaicism.
Raymond Lab, University of Cambridge RCV000850207 SCV000897745 pathogenic Intellectual disability 2019-02-13 criteria provided, single submitter research

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