ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.10054C>G (p.Gln3352Glu)

dbSNP: rs2092568887
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328728 SCV001519913 uncertain significance Kleefstra syndrome 2 2020-05-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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