ClinVar Miner

Submissions for variant NM_014727.3(KMT2B):c.4847C>T (p.Ala1616Val)

dbSNP: rs1599687853
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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 Munich, Klinikum Rechts Der Isar, Tu München RCV000995574 SCV001149816 likely pathogenic Dystonia 28, childhood-onset 2019-06-13 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000995574 SCV003806911 likely pathogenic Dystonia 28, childhood-onset 2022-10-14 criteria provided, single submitter clinical testing ACMG classification criteria: PS4 supporting, PM1 moderated, PM2 moderated, PM6 moderated

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