ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.5127C>G (p.Arg1709=)

dbSNP: rs2120580494
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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 RCV002150657 SCV002459617 likely benign Kabuki syndrome 2021-04-21 criteria provided, single submitter clinical testing

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