ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.8849_8850del (p.His2950fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989661 SCV004805924 pathogenic Kleefstra syndrome 2 2024-03-25 criteria provided, single submitter clinical testing
Laboratory of Genetics, Children's Clinical University Hospital Latvia RCV004731111 SCV005044977 pathogenic KMT2C-related NDD criteria provided, single submitter research
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001257012 SCV001433568 likely pathogenic Rare genetic intellectual disability no assertion criteria provided clinical testing

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