ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.8788T>C (p.Ser2930Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Daryl Scott Lab, Baylor College of Medicine RCV005229580 SCV005871059 uncertain significance Kleefstra syndrome 2 2024-01-01 criteria provided, single submitter clinical testing PM2

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