ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.4470A>G (p.Glu1490=)

dbSNP: rs769291920
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002106494 SCV002440762 likely benign Kabuki syndrome 2021-10-08 criteria provided, single submitter clinical testing

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