ClinVar Miner

Submissions for variant NM_001197104.1(KMT2A):c.1642A>G (p.Thr548Ala) (rs1057519412)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille RCV000417113 SCV000485044 likely benign Wiedemann-Steiner syndrome no assertion criteria provided clinical testing

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