ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.1361T>A (p.Leu454Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003444518 SCV004171676 uncertain significance Kleefstra syndrome 2 2023-11-24 no assertion criteria provided clinical testing

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