ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.13324G>A (p.Ala4442Thr)

gnomAD frequency: 0.00001  dbSNP: rs911322619
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003148101 SCV003835852 uncertain significance Kabuki syndrome 1 2022-11-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003778887 SCV004650933 likely benign Kabuki syndrome 2023-10-13 criteria provided, single submitter clinical testing

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