ClinVar Miner

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

dbSNP: rs2092568887
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Total submissions: 2
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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].
3billion RCV001328728 SCV005328976 likely benign Kleefstra syndrome 2 2024-09-20 criteria provided, single submitter clinical testing The variant was identified in at least one patient who was diagnosed with a different variant in another gene and showed no symptoms related to the gene containing the variant in question.

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