ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.5536G>A (p.Val1846Met)

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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 RCV003131385 SCV003812581 uncertain significance Kleefstra syndrome 2 2019-12-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003778721 SCV004624955 likely benign not provided 2024-01-13 criteria provided, single submitter clinical testing

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