ClinVar Miner

Submissions for variant NM_014727.3(KMT2B):c.4090del (p.Val1364fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center RCV004795338 SCV005402458 pathogenic Dystonia 28, childhood-onset; Intellectual developmental disorder, autosomal dominant 68 2024-11-21 criteria provided, single submitter clinical testing PVS1, PM2. Rare, The identified variant has undergone family screening, and the parents and the patient's sibling were found to be normal for this variant. The result has been confirmed as "de novo" by NGS.

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