ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.12704T>G (p.Ile4235Ser)

dbSNP: rs2091568246
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV004799385 SCV001432851 uncertain significance Kleefstra syndrome 2 2022-01-21 criteria provided, single submitter clinical testing

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