ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.7372T>C (p.Phe2458Leu)

gnomAD frequency: 0.00006  dbSNP: rs375555515
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001941467 SCV002221235 likely benign not provided 2024-01-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003134283 SCV003812598 uncertain significance Kleefstra syndrome 2 2019-11-06 criteria provided, single submitter clinical testing

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