ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.6278C>T (p.Pro2093Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003133921 SCV003812596 uncertain significance Kleefstra syndrome 2 2020-02-26 criteria provided, single submitter clinical testing

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