ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.3194C>G (p.Ala1065Gly)

dbSNP: rs1284707010
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003130234 SCV003810111 uncertain significance Kleefstra syndrome 2 2020-11-26 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251806 SCV001427548 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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