ClinVar Miner

Submissions for variant NM_017635.5(KMT5B):c.1530_1534del (p.His512fs)

dbSNP: rs2153040748
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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 RCV002226895 SCV002505792 pathogenic Intellectual disability, autosomal dominant 51 2021-08-01 criteria provided, single submitter clinical testing

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