ClinVar Miner

Submissions for variant NM_001197104.1(KMT2A):c.4342T>C (p.Cys1448Arg) (rs863224895)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000199053 SCV000255412 likely pathogenic Wiedemann-Steiner syndrome 2013-02-12 criteria provided, single submitter clinical testing

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