ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.9823A>G (p.Met3275Val)

gnomAD frequency: 0.00002  dbSNP: rs182795390
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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 RCV001999597 SCV002291596 likely benign not provided 2022-07-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003134342 SCV003812587 uncertain significance Kleefstra syndrome 2 2019-12-11 criteria provided, single submitter clinical testing

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