ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.7941_7942del (p.Ile2648fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002289274 SCV002579919 likely pathogenic Wiedemann-Steiner syndrome 2022-06-15 criteria provided, single submitter clinical testing

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