ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.12944A>G (p.Gln4315Arg)

dbSNP: rs758018148
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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 RCV000908650 SCV001053427 likely benign Kabuki syndrome 2023-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001675971 SCV001892130 benign not provided 2020-12-12 criteria provided, single submitter clinical testing

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