ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.12322C>T (p.Arg4108Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV003493277 SCV004239069 uncertain significance Kleefstra syndrome 2 2024-01-15 criteria provided, single submitter clinical testing

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