ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.4030A>G (p.Ile1344Val)

gnomAD frequency: 0.00001  dbSNP: rs945467133
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198370 SCV001369282 uncertain significance Kleefstra syndrome 2 2019-12-11 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting.

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