ClinVar Miner

Submissions for variant NM_014727.2(KMT2B):c.4931G>T (p.Cys1644Phe) (rs1555731819)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network,NIH RCV000626041 SCV000746656 likely pathogenic Dystonia 28, childhood-onset 2017-09-30 criteria provided, single submitter clinical testing The c.4931G>T missense variant in KMG2B gene was identified as a de novo variant.

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