ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.1665_1666delinsTT (p.Trp555_Gln556delinsCysTer)

dbSNP: rs2152305937
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV002226961 SCV002505876 likely pathogenic Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 2021-08-01 criteria provided, single submitter clinical testing

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