ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.13587C>A (p.Ser4529Arg)

dbSNP: rs398123717
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080129 SCV000112024 uncertain significance not provided 2012-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003753085 SCV004396547 likely benign Kabuki syndrome 2023-01-24 criteria provided, single submitter clinical testing

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