ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.3334+1G>A

dbSNP: rs1135401764
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000496312 SCV000586704 pathogenic Wiedemann-Steiner syndrome 2017-08-01 criteria provided, single submitter clinical testing De novo splice donor variant in a patient with moderate ID and hypertelorism.

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