ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.6638G>C (p.Gly2213Ala)

gnomAD frequency: 0.00001  dbSNP: rs1447958658
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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 RCV001328733 SCV001519918 uncertain significance Kleefstra syndrome 2 2020-04-05 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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